ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) (rs79893125)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078658 SCV000110514 benign not specified 2013-05-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078658 SCV000303639 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361126 SCV000405186 benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266496 SCV000405187 benign Paramyotonia congenita of von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326159 SCV000405188 benign Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380811 SCV000405189 benign Potassium aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291102 SCV000405190 benign Hyperkalemic Periodic Paralysis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000078658 SCV000519927 benign not specified 2016-03-01 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 RCV000545291 SCV000658538 benign Hyperkalemic Periodic Paralysis Type 1 2017-08-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576525 SCV000677465 benign Potassium aggravated myotonia; Paramyotonia congenita of von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic Periodic Paralysis Type 1; Congenital myasthenic syndrome, acetazolamide-responsive 2017-05-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078658 SCV000152634 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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