ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1041A>G (p.Ser347=)

gnomAD frequency: 0.00032  dbSNP: rs149176010
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180345 SCV000232758 uncertain significance not provided 2014-08-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000265186 SCV000470763 uncertain significance Cohen syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV002317062 SCV000849516 likely benign Inborn genetic diseases 2017-04-14 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 RCV000265186 SCV001018170 likely benign Cohen syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000180345 SCV001765587 likely benign not provided 2019-02-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000180345 SCV004158246 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing VPS13B: BP4, BP7
Natera, Inc. RCV000265186 SCV001454221 likely benign Cohen syndrome 2020-04-15 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000180345 SCV002034595 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000180345 SCV002038019 likely benign not provided no assertion criteria provided clinical testing

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