ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4240C>T (p.Leu1414=)

gnomAD frequency: 0.00004  dbSNP: rs754939057
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000873489 SCV001015485 likely benign Cohen syndrome 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332834 SCV002633217 likely benign Inborn genetic diseases 2018-08-16 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.
PreventionGenetics, part of Exact Sciences RCV003975453 SCV004795789 likely benign VPS13B-related disorder 2021-08-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000873489 SCV001456266 uncertain significance Cohen syndrome 2020-01-24 no assertion criteria provided clinical testing

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