ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) (rs80338952)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514584 SCV000610753 likely benign not provided 2017-03-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000243762 SCV000335752 benign not specified 2015-10-09 criteria provided, single submitter clinical testing
GeneDx RCV000243762 SCV000519848 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.
GeneReviews RCV000020281 SCV000040636 benign Hyperkalemic Periodic Paralysis Type 1 2016-01-28 no assertion criteria provided literature only
Illumina Clinical Services Laboratory,Illumina RCV000293227 SCV000405316 likely benign Paramyotonia congenita of von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350459 SCV000405317 likely benign Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388766 SCV000405318 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296825 SCV000405319 likely benign Hyperkalemic Periodic Paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334879 SCV000405320 likely benign Potassium aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000020281 SCV000658611 benign Hyperkalemic Periodic Paralysis Type 1 2018-01-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000243762 SCV000303673 benign not specified criteria provided, single submitter clinical testing

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