ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4125C>T (p.Asp1375=) (rs375607705)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000269326 SCV000405081 uncertain significance Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326699 SCV000405082 uncertain significance Hyperkalemic Periodic Paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388217 SCV000405083 uncertain significance Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277723 SCV000405084 uncertain significance Paramyotonia congenita of von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330459 SCV000405085 uncertain significance Potassium aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000244648 SCV000303653 likely benign not specified criteria provided, single submitter clinical testing

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