ClinVar Miner

Submissions for variant NM_003392.7(WNT5A):c.807G>A (p.Lys269=)

gnomAD frequency: 0.00016  dbSNP: rs117338660
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000943395 SCV001089341 benign not provided 2023-12-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488757 SCV002794733 likely benign Autosomal dominant Robinow syndrome 1 2021-12-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957793 SCV004767840 benign WNT5A-related disorder 2019-12-16 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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