ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2109A>C (p.Ser703=)

gnomAD frequency: 0.00001  dbSNP: rs1269866492
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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 RCV001396412 SCV001598143 likely benign Cohen syndrome 2019-09-10 criteria provided, single submitter clinical testing

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