ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.1100+7G>A (rs200770684)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576474 SCV000677459 benign Potassium aggravated myotonia; Paramyotonia congenita of von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic Periodic Paralysis Type 1; Congenital myasthenic syndrome, acetazolamide-responsive 2017-06-09 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513381 SCV000608831 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000243786 SCV000531580 likely benign not specified 2016-09-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000355473 SCV000405306 likely benign Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263007 SCV000405307 likely benign Hyperkalemic Periodic Paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301554 SCV000405308 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358716 SCV000405309 likely benign Paramyotonia congenita of von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266497 SCV000405310 likely benign Potassium aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000530256 SCV000658511 benign Hyperkalemic Periodic Paralysis Type 1 2017-10-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000243786 SCV000303630 likely benign not specified criteria provided, single submitter clinical testing

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