ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His)

gnomAD frequency: 0.00004  dbSNP: rs138171489
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000950528 SCV001096842 likely benign Cohen syndrome 2024-01-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000950528 SCV001320455 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
New York Genome Center RCV000950528 SCV003925195 uncertain significance Cohen syndrome 2022-06-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000950528 SCV001456246 likely benign Cohen syndrome 2020-04-15 no assertion criteria provided clinical testing

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