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Sensitive

Lucey-Driscoll syndrome

UGT1A1 · rs3755319

Strength of the evidence

1 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 0 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 Pathogenic for Lucey-Driscoll syndrome; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2000-11-01. ClinVar record 12282 NC_000002.12:g.233758936=

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 2026-11-09 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.

How common each version is

AC
Korean KRGDB
A 72.0% · C 28.0%
Korean Korea4K
A 71.6% · C 28.4%
Korean Korea1K
A 71.1% · C 28.9%
Japanese ToMMo
A 75.5% · C 24.4%
Vietnamese
A 65.4% · C 34.6%
World 1000 Genomes
A 45.0% · C 55.0%
World TOPMed
A 47.5% · C 52.5%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.

ClinVar's record for this position describes the reference version of the DNA itself, the version written in the reference genome, not a change from it. So this page does not say what any result means: the record cannot be read as "this genotype causes the condition". ClinVar's own call, and how far it was reviewed, are shown above.

Source: ClinVar VCV000012282, no assertion criteria provided

Quoting this page

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Lucey-Driscoll syndrome (rs3755319). MyGeneLog™. https://www.mygenelog.com/variants/rs3755319

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