ClinVar Miner

Submissions for variant NM_014231.5(VAMP1):c.130-25T>A

gnomAD frequency: 0.96882  dbSNP: rs2534718
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001695243 SCV001912927 benign not provided 2021-05-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243423 SCV002514419 benign Myasthenic syndrome, congenital, 25, presynaptic 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243422 SCV002514421 benign Spastic ataxia 1 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001695243 SCV005236867 benign not provided criteria provided, single submitter not provided

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