ClinVar Miner

Submissions for variant NM_000122.2(ERCC3):c.1854G>A (p.Pro618=)

gnomAD frequency: 0.00004  dbSNP: rs765724086
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 RCV001326876 SCV001517929 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258204 SCV002532609 uncertain significance Xeroderma pigmentosum 2021-05-12 criteria provided, single submitter curation

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