ClinVar Miner

Submissions for variant NM_003392.7(WNT5A):c.206G>T (p.Cys69Phe)

dbSNP: rs786204837
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital RCV001376107 SCV001573092 pathogenic Autosomal dominant Robinow syndrome 1 2021-04-30 criteria provided, single submitter clinical testing The novel variant, c.206G>T in WNT5A (NM_003392), was detected in a fetus with Robinow Syndrome, has not been reported nor included in the 1,000 Genomes browsers. The variant was de-novo, which was not detected in the parents of the fetus.

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