ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=) (rs2070720)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078662 SCV000110518 benign not specified 2013-07-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078662 SCV000152645 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078662 SCV000303661 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302506 SCV000405016 benign Potassium aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366604 SCV000405017 benign Hyperkalemic Periodic Paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271992 SCV000405018 benign Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327021 SCV000405019 benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363176 SCV000405020 benign Paramyotonia congenita of von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576618 SCV000677471 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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