ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) (rs774791374)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170377 SCV000222792 likely pathogenic Cockayne syndrome B 2012-09-07 criteria provided, single submitter clinical testing
Counsyl RCV000668158 SCV000792712 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebro-oculo-facio-skeletal syndrome; Cockayne syndrome B 2017-07-20 criteria provided, single submitter clinical testing

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