ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4224+549C>T

gnomAD frequency: 0.00113  dbSNP: rs182492131
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424631 SCV000515897 likely benign not specified 2016-05-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001510944 SCV001718105 benign Cohen syndrome 2024-01-31 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000424631 SCV001925792 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723989 SCV001954687 likely benign not provided no assertion criteria provided clinical testing

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