ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.184-6C>T

gnomAD frequency: 0.00001  dbSNP: rs763639137
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002205230 SCV002361129 likely benign not provided 2024-01-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258367 SCV002531575 uncertain significance Xeroderma pigmentosum 2021-04-05 criteria provided, single submitter curation

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