ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) (rs202106192)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713115 SCV000843686 benign not provided 2017-09-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000713115 SCV000228112 uncertain significance not provided 2016-06-22 criteria provided, single submitter clinical testing
GeneDx RCV000192652 SCV000520901 likely benign not specified 2018-03-16 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.
Genetic Services Laboratory, University of Chicago RCV000192652 SCV000248822 likely benign not specified 2015-06-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307084 SCV000405036 likely benign Hyperkalemic Periodic Paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371033 SCV000405037 likely benign Paramyotonia congenita of von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276428 SCV000405038 likely benign Potassium aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331539 SCV000405039 likely benign Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356751 SCV000405040 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000556643 SCV000658585 likely benign Hyperkalemic Periodic Paralysis Type 1 2017-12-28 criteria provided, single submitter clinical testing

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