ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.503C>T (p.Ala168Val) (rs2020961)

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Total submissions: 2
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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 2019-06-18 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].

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