ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1034_1035insT (p.Lys345fs)

dbSNP: rs1590474873
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002510766 SCV002821506 pathogenic not provided 2022-12-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002510766 SCV004235171 pathogenic not provided 2023-02-17 criteria provided, single submitter clinical testing
OMIM RCV000001780 SCV000021936 pathogenic Cockayne syndrome type 2 2008-06-01 no assertion criteria provided literature only

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