ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) (rs41280102)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000078659 SCV000615073 benign not specified 2017-03-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078659 SCV000110515 benign not specified 2013-08-12 criteria provided, single submitter clinical testing
GeneDx RCV000078659 SCV000520902 benign not specified 2016-10-19 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.
GeneReviews RCV000020269 SCV000040623 benign Hyperkalemic Periodic Paralysis Type 1 2016-01-28 no assertion criteria provided literature only
Genetic Services Laboratory, University of Chicago RCV000078659 SCV000152635 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 RCV000342369 SCV000405171 likely benign Paramyotonia congenita of von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382734 SCV000405172 likely benign Hyperkalemic Periodic Paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288548 SCV000405173 likely benign Potassium aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348143 SCV000405174 likely benign Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398742 SCV000405175 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000020269 SCV000658540 benign Hyperkalemic Periodic Paralysis Type 1 2018-01-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078659 SCV000303640 benign not specified criteria provided, single submitter clinical testing

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