ClinVar Miner

Submissions for variant NM_000122.2(ERCC3):c.1053G>C (p.Val351=)

gnomAD frequency: 0.00008  dbSNP: rs373666495
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001473594 SCV001677748 likely benign not provided 2024-01-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256789 SCV002532591 likely benign Xeroderma pigmentosum 2021-10-21 criteria provided, single submitter curation

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