ClinVar Miner

Submissions for variant NM_001349253.2(SCN11A):c.2423C>A (p.Ala808Asp)

dbSNP: rs483352921
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000991311 SCV001142716 likely pathogenic Congenital sensory neuropathy with selective loss of small myelinated fibers 2019-06-20 criteria provided, single submitter clinical testing

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