ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.3172C>G (p.Leu1058Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003139315 SCV003823687 uncertain significance Microcephaly 18, primary, autosomal dominant 2020-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004676181 SCV005179138 likely benign Inborn genetic diseases 2024-06-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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