ClinVar Miner

Submissions for variant NM_005430.4(WNT1):c.258del (p.Gln87fs)

dbSNP: rs1170819232
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773794 SCV001991987 uncertain significance not provided 2019-04-15 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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