ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.294G>C (p.Glu98Asp)

gnomAD frequency: 0.00002  dbSNP: rs145947678
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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 RCV000898560 SCV001042772 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257423 SCV002531596 likely benign Xeroderma pigmentosum 2021-12-20 criteria provided, single submitter curation
ITMI RCV000120785 SCV000084949 not provided not specified 2013-09-19 no assertion provided reference population

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