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Sensitive

Chronic kidney disease

COL4A3 · rs115324397

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 Benign/Likely benign for Chronic kidney disease, Alport syndrome, Focal segmental glomerulosclerosis; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 16 submitters), last evaluated 2026-06-01. ClinVar record 254994 NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr)

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 benign or likely benign for Chronic kidney disease: labs that looked at it found it does not, or probably does not, cause the condition. (ClinVar VCV000254994, criteria provided, multiple submitters, no conflicts)
A/C One copy of the version ClinVar lists as benign or likely benign for Chronic kidney disease: labs that looked at it found it does not, or probably does not, cause the condition. (ClinVar VCV000254994, criteria provided, multiple submitters, no conflicts)
C/C No copy of the version ClinVar lists as benign or likely benign for Chronic kidney disease. This is the usual result. (ClinVar VCV000254994, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV000254994, criteria provided, multiple submitters, no conflicts

Quoting this page

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Chronic kidney disease (rs115324397). MyGeneLog™. https://www.mygenelog.com/variants/rs115324397

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