ClinVar Miner

Submissions for variant NM_014232.3(VAMP2):c.334+12G>C

gnomAD frequency: 0.20412  dbSNP: rs75664430
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001779713 SCV002015473 benign not provided 2021-11-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243461 SCV002514422 benign Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001779713 SCV005251641 benign not provided criteria provided, single submitter not provided

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