ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11655C>T (p.Pro3885=)

gnomAD frequency: 0.00001  dbSNP: rs368092348
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001468514 SCV001672568 likely benign Cohen syndrome 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434254 SCV004158286 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing VPS13B: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003900617 SCV004712556 likely benign VPS13B-related disorder 2021-05-26 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).
Natera, Inc. RCV001468514 SCV002082808 likely benign Cohen syndrome 2021-07-29 no assertion criteria provided clinical testing

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