ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6930G>A (p.Gly2310=)

gnomAD frequency: 0.00001  dbSNP: rs778096388
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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 RCV002313532 SCV000848594 likely benign Inborn genetic diseases 2016-12-23 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 RCV001474131 SCV001678297 likely benign Cohen syndrome 2025-01-31 criteria provided, single submitter clinical testing

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