ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1701A>G (p.Gly567=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002630114 SCV002949415 likely benign Cohen syndrome 2024-10-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434496 SCV004158249 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing VPS13B: BP4, BP7

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