ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) (rs201148948)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000279770 SCV000405196 likely benign Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334804 SCV000405197 likely benign Paramyotonia congenita of von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393745 SCV000405198 likely benign Hyperkalemic Periodic Paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299674 SCV000405199 likely benign Potassium aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358171 SCV000405200 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000489566 SCV000577015 likely benign not specified 2017-11-30 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.
Invitae RCV000761997 SCV000658537 likely benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576326 SCV000677464 benign Potassium aggravated myotonia; Paramyotonia congenita of von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic Periodic Paralysis Type 1; Congenital myasthenic syndrome, acetazolamide-responsive 2017-05-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761997 SCV000892230 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing

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