ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.8722A>T (p.Thr2908Ser)

gnomAD frequency: 0.00013  dbSNP: rs184253678
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752071 SCV001986796 uncertain significance not provided 2021-03-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001752071 SCV003509934 likely benign not provided 2023-05-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040087 SCV004980864 likely benign Inborn genetic diseases 2023-10-25 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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