ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.808C>G (p.Gln270Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Immunology and Genetics Kaiserslautern RCV004771571 SCV005382130 uncertain significance Familial hyperkalemic periodic paralysis 2022-09-13 criteria provided, single submitter clinical testing ACMG Criteria: PM2_P, PM5, PP3; Variant was found in heterozygous state. Patient also carried NM_000334.4:c.2076C>G heterozygously.

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