ClinVar Miner

Submissions for variant NM_000122.2(ERCC3):c.2334G>A (p.Lys778=)

gnomAD frequency: 0.00050  dbSNP: rs147499527
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000893880 SCV001037841 likely benign not provided 2024-11-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255570 SCV002532628 likely benign Xeroderma pigmentosum 2021-02-13 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV000893880 SCV004702909 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing ERCC3: BP4, BP7

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