ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10868-7G>A

gnomAD frequency: 0.00009  dbSNP: rs376141593
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000894810 SCV001038818 likely benign Cohen syndrome 2024-01-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000894810 SCV002811241 likely benign Cohen syndrome 2021-07-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958017 SCV004783342 likely benign VPS13B-related disorder 2021-06-03 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. RCV000894810 SCV001454471 uncertain significance Cohen syndrome 2020-01-17 no assertion criteria provided clinical testing

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