ClinVar Miner

Submissions for variant NM_000122.2(ERCC3):c.429C>T (p.Leu143=)

gnomAD frequency: 0.00006  dbSNP: rs908044728
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 RCV001930184 SCV002133080 likely benign not provided 2023-12-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002259146 SCV002532635 likely benign Xeroderma pigmentosum 2021-08-28 criteria provided, single submitter curation

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