ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2108T>C (p.Leu703Pro)

dbSNP: rs2144793242
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV001374643 SCV001571562 likely pathogenic Paramyotonia congenita of Von Eulenburg 2020-06-26 no assertion criteria provided clinical testing

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