ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.3514C>T (p.Arg1172Trp)

dbSNP: rs867862540
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Total submissions: 3
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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 RCV001706953 SCV001934554 likely pathogenic Snijders Blok-Campeau syndrome 2020-09-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001706953 SCV002022531 likely pathogenic Snijders Blok-Campeau syndrome 2020-01-13 criteria provided, single submitter clinical testing
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001706953 SCV002102875 likely pathogenic Snijders Blok-Campeau syndrome 2021-12-09 criteria provided, single submitter clinical testing

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