ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9568G>C (p.Val3190Leu)

gnomAD frequency: 0.00004  dbSNP: rs775768806
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000802866 SCV000942712 uncertain significance Cohen syndrome 2021-08-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000802866 SCV001460993 uncertain significance Cohen syndrome 2020-09-16 no assertion criteria provided clinical testing

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