ClinVar Miner

Submissions for variant NM_001330311.2(DVL1):c.1547del (p.Thr516fs)

dbSNP: rs1569684523
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995758 SCV001150090 pathogenic Autosomal dominant Robinow syndrome 2 2018-11-30 criteria provided, single submitter clinical testing

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