ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.4024C>T (p.Arg1342Trp)

dbSNP: rs2151615708
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001843811 SCV002102954 pathogenic Snijders Blok-Campeau syndrome 2021-06-11 criteria provided, single submitter clinical testing

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