ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10827C>G (p.Ala3609=)

gnomAD frequency: 0.00003  dbSNP: rs765577341
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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 RCV001490587 SCV001695156 likely benign Cohen syndrome 2024-11-20 criteria provided, single submitter clinical testing

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