ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9603A>G (p.Gly3201=)

gnomAD frequency: 0.00001  dbSNP: rs564362618
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000360565 SCV000470842 uncertain significance Cohen syndrome 2018-01-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000360565 SCV001051718 likely benign Cohen syndrome 2023-12-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000360565 SCV001653404 likely benign Cohen syndrome 2021-05-18 criteria provided, single submitter clinical testing

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