ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4224+724A>G

gnomAD frequency: 0.00002  dbSNP: rs780003978
Minimum review status: Collection method:
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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 RCV002102991 SCV002384361 likely benign Cohen syndrome 2023-12-21 criteria provided, single submitter clinical testing

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