ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3481_3482delinsCC (p.Ser1161Pro)

dbSNP: rs1590405627
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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 RCV000876238 SCV001018784 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001261852 SCV001439192 uncertain significance Cockayne syndrome 2020-08-19 criteria provided, single submitter clinical testing

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