ClinVar Miner

Submissions for variant NM_014231.5(VAMP1):c.*1588T>C

gnomAD frequency: 0.70161  dbSNP: rs1045452
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001621632 SCV001843458 benign not provided 2021-05-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243336 SCV002514415 benign Myasthenic syndrome, congenital, 25, presynaptic 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243335 SCV002514416 benign Spastic ataxia 1 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001621632 SCV005236860 benign not provided criteria provided, single submitter not provided

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