ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7780-19C>T

gnomAD frequency: 0.00009  dbSNP: rs199981958
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081916 SCV000113851 uncertain significance not provided 2012-12-13 criteria provided, single submitter clinical testing
Counsyl RCV000667453 SCV000791901 likely benign Cohen syndrome 2017-05-31 criteria provided, single submitter clinical testing
Invitae RCV000667453 SCV002466282 likely benign Cohen syndrome 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935063 SCV004754531 likely benign VPS13B-related disorder 2023-03-28 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).

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