ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.503C>T (p.Ala168Val)

dbSNP: rs2020961
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862022 SCV001002450 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2023-12-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV001292967 SCV001481682 uncertain significance Fanconi anemia complementation group Q 2018-10-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002536230 SCV003698493 likely benign Inborn genetic diseases 2021-08-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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