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Sensitive

Crigler-Najjar syndrome

UGT1A1 · rs1042640

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−748, with 2 associations in the GWAS Catalog.

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 Crigler-Najjar syndrome, Lucey-Driscoll syndrome, Gilbert syndrome; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2018-01-13. ClinVar record 335085 NM_000463.3(UGT1A1):c.*339G>C

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

C/C Two copies of the version ClinVar lists as benign or likely benign for Crigler-Najjar syndrome: labs that looked at it found it does not, or probably does not, cause the condition. So far only one lab has made this call, so it may change. (ClinVar VCV000335085, criteria provided, single submitter)
C/G One copy of the version ClinVar lists as benign or likely benign for Crigler-Najjar syndrome: labs that looked at it found it does not, or probably does not, cause the condition. So far only one lab has made this call, so it may change. (ClinVar VCV000335085, criteria provided, single submitter)
G/G No copy of the version ClinVar lists as benign or likely benign for Crigler-Najjar syndrome. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV000335085, criteria provided, single submitter)

Source: ClinVar VCV000335085, criteria provided, single submitter

Quoting this page

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Crigler-Najjar syndrome (rs1042640). MyGeneLog™. https://www.mygenelog.com/variants/rs1042640

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