ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.5416-132A>G

gnomAD frequency: 0.50146  dbSNP: rs1890899
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
GeneDx RCV001598374 SCV001831655 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001598374 SCV005268598 benign not provided criteria provided, single submitter not provided

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