ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2472C>T (p.Ser824=)

gnomAD frequency: 0.00011  dbSNP: rs766373133
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000634115 SCV000755399 likely benign Cohen syndrome 2024-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726280 SCV004158252 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing VPS13B: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003945595 SCV004766732 likely benign VPS13B-related disorder 2022-06-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics RCV001726280 SCV005223942 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001700431 SCV001920762 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726280 SCV001967303 likely benign not provided no assertion criteria provided clinical testing

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