ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.5215C>T (p.Arg1739Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV003234844 SCV003932811 uncertain significance Hypokalemic periodic paralysis, type 2 criteria provided, single submitter clinical testing

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