ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp) (rs2058194)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118272 SCV000152642 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118272 SCV000203520 benign not specified 2014-04-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118272 SCV000303654 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306001 SCV000405076 benign Hyperkalemic Periodic Paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358378 SCV000405077 benign Paramyotonia congenita of von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266121 SCV000405078 benign Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309565 SCV000405079 benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366334 SCV000405080 benign Potassium aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576744 SCV000677469 benign Potassium aggravated myotonia; Paramyotonia congenita of von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic Periodic Paralysis Type 1; Congenital myasthenic syndrome, acetazolamide-responsive 2017-04-14 criteria provided, single submitter clinical testing

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