ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.449-1G>A

dbSNP: rs786205835
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000171051 SCV000223615 pathogenic not provided 2023-06-05 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29655203)

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