ClinVar Miner

Submissions for variant NM_003392.7(WNT5A):c.461G>T (p.Cys154Phe)

dbSNP: rs2051315439
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334139 SCV001526890 uncertain significance Autosomal dominant Robinow syndrome 1 2018-01-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001334139 SCV001438011 likely pathogenic Autosomal dominant Robinow syndrome 1 2018-08-24 no assertion criteria provided research

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