ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.633C>T (p.Tyr211=)

gnomAD frequency: 0.00073  dbSNP: rs112910027
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 RCV000892753 SCV001036651 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255569 SCV002531606 likely benign Xeroderma pigmentosum 2021-11-15 criteria provided, single submitter curation

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