ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10506A>G (p.Lys3502=)

gnomAD frequency: 0.00001  dbSNP: rs1373791263
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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 RCV002149678 SCV002412109 likely benign Cohen syndrome 2023-05-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004744283 SCV005362921 likely benign VPS13B-related disorder 2023-03-21 no assertion criteria provided 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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