ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1425+9G>A

gnomAD frequency: 0.00004  dbSNP: rs551460373
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501402 SCV000597874 uncertain significance not specified 2016-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000952568 SCV001099083 benign Cohen syndrome 2024-01-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000952568 SCV001325461 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.
Natera, Inc. RCV000952568 SCV001454223 benign Cohen syndrome 2019-11-11 no assertion criteria provided clinical testing

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