ClinVar Miner

Submissions for variant NM_014231.5(VAMP1):c.146G>C (p.Arg49Pro)

dbSNP: rs754046104
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV000664239 SCV000787807 pathogenic Congenital myasthenic syndrome 2018-04-25 no assertion criteria provided clinical testing
OMIM RCV000757909 SCV000886419 pathogenic Myasthenic syndrome, congenital, 25, presynaptic 2019-02-18 no assertion criteria provided literature only

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