ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3720+10A>G (rs111679484)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000247607 SCV000615089 benign not specified 2017-07-21 criteria provided, single submitter clinical testing
GeneDx RCV000247607 SCV000519849 benign not specified 2016-02-15 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 RCV000378995 SCV000405106 likely benign Paramyotonia congenita of von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286919 SCV000405107 likely benign Hyperkalemic Periodic Paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321044 SCV000405108 likely benign Potassium aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378086 SCV000405109 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290643 SCV000405110 likely benign Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000534094 SCV000658566 benign Hyperkalemic Periodic Paralysis Type 1 2017-08-07 criteria provided, single submitter clinical testing
PreventionGenetics RCV000247607 SCV000303648 benign not specified criteria provided, single submitter clinical testing

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