ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) (rs786205171)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224382 SCV000281408 pathogenic not provided 2015-05-14 criteria provided, single submitter clinical testing
Claritas Genomics RCV000170386 SCV000222804 pathogenic Cockayne syndrome B 2012-09-21 criteria provided, single submitter clinical testing
Counsyl RCV000666242 SCV000790500 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebro-oculo-facio-skeletal syndrome; Cockayne syndrome B 2017-04-03 criteria provided, single submitter clinical testing

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