ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) (rs76894284)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000118265 SCV000303636 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369800 SCV000405226 likely benign Paramyotonia congenita of von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261092 SCV000405227 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316342 SCV000405228 likely benign Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375648 SCV000405229 likely benign Hyperkalemic Periodic Paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262511 SCV000405230 likely benign Potassium aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000118265 SCV000518104 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 RCV000532153 SCV000658531 benign Hyperkalemic Periodic Paralysis Type 1 2017-08-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576790 SCV000677463 benign Potassium aggravated myotonia; Paramyotonia congenita of von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic Periodic Paralysis Type 1; Congenital myasthenic syndrome, acetazolamide-responsive 2017-05-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118265 SCV000152632 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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