ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) (rs771781694)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666614 SCV000790933 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome B 2017-04-14 criteria provided, single submitter clinical testing

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