ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.90A>G (p.Leu30=)

gnomAD frequency: 0.00003  dbSNP: rs771860546
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316801 SCV000850547 likely benign Inborn genetic diseases 2017-03-15 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001453759 SCV001657462 likely benign Cohen syndrome 2024-03-26 criteria provided, single submitter clinical testing

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