ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.842G>C (p.Cys281Ser)

dbSNP: rs1860524875
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253608 SCV001429422 likely pathogenic Intellectual disability, autosomal dominant 24 2018-12-13 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001253608 SCV004847224 likely pathogenic Intellectual disability, autosomal dominant 24 2002-07-11 criteria provided, single submitter clinical testing

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