ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2272C>G (p.Pro758Ala)

gnomAD frequency: 0.00002  dbSNP: rs1483935385
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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 RCV001051604 SCV001215770 uncertain significance Cohen syndrome 2021-08-30 criteria provided, single submitter clinical testing

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