ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.581-10T>C

gnomAD frequency: 0.00003  dbSNP: rs770058631
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001487165 SCV001691649 likely benign Cohen syndrome 2023-08-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001796519 SCV002033843 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796519 SCV002038276 likely benign not provided no assertion criteria provided clinical testing

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