ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7980T>G (p.Arg2660=)

gnomAD frequency: 0.00001  dbSNP: rs780841974
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002867021 SCV003237442 likely benign Cohen syndrome 2023-09-21 criteria provided, single submitter clinical testing

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