ClinVar Miner

Submissions for variant NM_001330311.2(DVL1):c.1682_1683dup (p.Ser562fs)

dbSNP: rs1643642110
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198409 SCV001369343 likely pathogenic Autosomal dominant Robinow syndrome 1 2019-08-09 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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