ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.5274C>T (p.His1758=) (rs113418988)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000351292 SCV000404991 likely benign Paramyotonia congenita of von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404024 SCV000404992 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311318 SCV000404993 likely benign Potassium aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356654 SCV000404994 likely benign Hyperkalemic Periodic Paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261928 SCV000404995 likely benign Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000504380 SCV000596974 likely benign not specified 2016-04-11 criteria provided, single submitter clinical testing
Invitae RCV000552372 SCV000658596 benign not provided 2019-01-07 criteria provided, single submitter clinical testing

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