ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3429+1G>T (rs1574166948)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986892 SCV001136042 likely pathogenic Severe myoclonic epilepsy in infancy 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001593162 SCV001824468 pathogenic not provided 2020-04-03 criteria provided, single submitter clinical testing Reported previously in an individual with Dravet syndrome, however parental studies were not performed (Zuberi et al., 2011); Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32090326, 21248271, 29408779, 25525159, 29655203)

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