ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10824C>T (p.His3608=)

gnomAD frequency: 0.00126  dbSNP: rs114818249
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253497 SCV000316183 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000873406 SCV001015392 benign Cohen syndrome 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000873406 SCV001324225 likely benign Cohen syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000253497 SCV002103924 likely benign not specified 2022-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429190 SCV002729317 likely benign Inborn genetic diseases 2017-11-17 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.
CeGaT Center for Human Genetics Tuebingen RCV001699274 SCV004158281 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing VPS13B: BP4, BP7
Clinical Genetics, Academic Medical Center RCV001699274 SCV001925878 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699274 SCV001967264 likely benign not provided no assertion criteria provided clinical testing

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