ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1997G>A (p.Arg666His)

gnomAD frequency: 0.00001  dbSNP: rs769904341
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001261851 SCV001439191 uncertain significance Cockayne syndrome 2020-08-19 criteria provided, single submitter clinical testing

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