ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) (rs73992419)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000118266 SCV000525345 benign not specified 2016-05-18 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.
Genetic Services Laboratory, University of Chicago RCV000118266 SCV000152636 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.
Illumina Clinical Services Laboratory,Illumina RCV000334723 SCV000405151 benign Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373274 SCV000405152 benign Paramyotonia congenita of von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285832 SCV000405153 benign Potassium aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342987 SCV000405154 benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392013 SCV000405155 benign Hyperkalemic Periodic Paralysis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000551435 SCV000658547 benign Hyperkalemic Periodic Paralysis Type 1 2017-08-07 criteria provided, single submitter clinical testing
PreventionGenetics RCV000118266 SCV000303642 benign not specified criteria provided, single submitter clinical testing

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