ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.483-9C>A (rs201552497)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713117 SCV000843688 benign not provided 2018-05-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290044 SCV000405356 uncertain significance Potassium aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326290 SCV000405357 uncertain significance Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380892 SCV000405358 uncertain significance Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286461 SCV000405359 uncertain significance Paramyotonia congenita of von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341035 SCV000405360 uncertain significance Hyperkalemic Periodic Paralysis 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000250421 SCV000303660 likely benign not specified criteria provided, single submitter clinical testing

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