ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile)

gnomAD frequency: 0.00009  dbSNP: rs117934093
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000290420 SCV000470869 uncertain significance Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000290420 SCV001098097 likely benign Cohen syndrome 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000290420 SCV001653369 uncertain significance Cohen syndrome 2021-05-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003922610 SCV004746746 likely benign VPS13B-related disorder 2019-11-27 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. RCV000290420 SCV001456508 likely benign Cohen syndrome 2020-06-22 no assertion criteria provided clinical testing

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