ClinVar Miner

Submissions for variant NM_003392.7(WNT5A):c.547G>A (p.Gly183Ser)

gnomAD frequency: 0.00001  dbSNP: rs1393089710
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001270765 SCV001451517 uncertain significance Autosomal dominant Robinow syndrome 1 2019-02-14 criteria provided, single submitter clinical testing The WNT5A c.547G>A (p.Gly183Ser) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is found at a frequency of 0.000014 in the Total population of the Genome Aggregation Database. Based on the limited evidence, the p.Gly183Ser variant is classified as a variant of uncertain significance for Robinow syndrome.

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