ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1999del (p.Thr667fs)

dbSNP: rs786205169
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170375 SCV000222790 pathogenic Cockayne syndrome type 2 2011-09-26 criteria provided, single submitter clinical testing

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