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Nemaline myopathy 2

NEB · rs1000108046

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

There is no record yet to score this position by (a ClinVar disease classification or a genome-wide significant study). That is not the same as weak evidence.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10⁻⁵⁰. 2: ClinVar from one lab (1 star), or p ≤ 10⁻²⁰. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10⁻⁸). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What ClinVar records

Classification Uncertain significance for Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Inborn genetic diseases; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 6 submitters), last evaluated 2025-01-28. ClinVar record 1044213 NM_001164508.2(NEB):c.17197C>T (p.Arg5733Cys)

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

What this is ClinVar's aggregate record for this position (as of its 2026-11-01 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A Two copies of the version ClinVar lists as of uncertain significance for Nemaline myopathy 2: labs cannot yet say whether it causes the condition. An uncertain result is not a diagnosis; a doctor or genetic counsellor can say whether any further test is worth doing. (ClinVar VCV001044213, criteria provided, multiple submitters, no conflicts)

A/G One copy of the version ClinVar lists as of uncertain significance for Nemaline myopathy 2: labs have looked at it and cannot yet say whether it causes the condition. An uncertain result is not a diagnosis, and medical guidelines say it should not be used on its own to make health decisions. (ClinVar VCV001044213, criteria provided, multiple submitters, no conflicts)

G/G No copy of the version ClinVar lists as of uncertain significance for Nemaline myopathy 2. This is the usual result. (ClinVar VCV001044213, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV001044213, criteria provided, multiple submitters, no conflicts

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Nemaline myopathy 2 (rs1000108046). MyGeneLog™. https://www.mygenelog.com/variants/rs1000108046

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