ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10518A>T (p.Leu3506Phe)

gnomAD frequency: 0.00001  dbSNP: rs759427770
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179182 SCV000231388 uncertain significance not provided 2015-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852230 SCV002169008 uncertain significance Cohen syndrome 2021-08-27 criteria provided, single submitter clinical testing

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