ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) (rs117664682)

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Total submissions: 10
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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 RCV000443497 SCV000510918 benign not provided 2016-11-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000241827 SCV000337977 benign not specified 2015-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000241827 SCV000715002 benign not specified 2017-03-27 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.
Illumina Clinical Services Laboratory,Illumina RCV000371440 SCV000405166 likely benign Hyperkalemic Periodic Paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262834 SCV000405167 likely benign Potassium aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322477 SCV000405168 likely benign Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377076 SCV000405169 likely benign Paramyotonia congenita of von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287379 SCV000405170 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000543958 SCV000658541 benign Hyperkalemic Periodic Paralysis Type 1 2018-01-04 criteria provided, single submitter clinical testing
PreventionGenetics RCV000241827 SCV000303641 likely benign not specified criteria provided, single submitter clinical testing

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