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Standard

Anemia, nonspherocytic hemolytic, due to G6PD deficiency

G6PD · rs2523263137

Strength of the evidence

3 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 2 of 4 stars.

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 Likely pathogenic for Anemia, nonspherocytic hemolytic, due to G6PD deficiency; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2024-03-25. ClinVar record 1722608 NM_001360016.2(G6PD):c.1063A>G (p.Ile355Val)

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 2026-10-19 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

C/C Two copies of the version ClinVar lists as likely disease-causing for Anemia, nonspherocytic hemolytic, due to G6PD deficiency. A result like this should be confirmed by a medical genetic test and talked through with a doctor; consumer DNA files can misread rare variants. (ClinVar VCV001722608, criteria provided, multiple submitters, no conflicts)
C/T One copy of the version ClinVar lists as likely disease-causing for Anemia, nonspherocytic hemolytic, due to G6PD deficiency. Some conditions need only one copy; for others, one copy makes a person a carrier who is usually healthy but can pass it on. A genetic counsellor can say which applies. (ClinVar VCV001722608, criteria provided, multiple submitters, no conflicts)
T/T No copy of the version ClinVar lists as likely disease-causing for Anemia, nonspherocytic hemolytic, due to G6PD deficiency. This is the usual result. (ClinVar VCV001722608, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV001722608, criteria provided, multiple submitters, no conflicts

Quoting this page

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Anemia, nonspherocytic hemolytic, due to G6PD deficiency (rs2523263137). MyGeneLog™. https://www.mygenelog.com/variants/rs2523263137

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