ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2651-10T>G

gnomAD frequency: 0.00001  dbSNP: rs398124330
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081888 SCV000113823 uncertain significance not provided 2013-04-30 criteria provided, single submitter clinical testing
Counsyl RCV000665438 SCV000789563 uncertain significance Cohen syndrome 2017-02-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665438 SCV001125696 likely benign Cohen syndrome 2023-12-17 criteria provided, single submitter clinical testing

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