Submissions for variant NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) (rs201148948)

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Total submissions: 9

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Clinical Services Laboratory,Illumina	RCV000279770	SCV000405196	likely benign	Congenital Myasthenic Syndrome, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000334804	SCV000405197	likely benign	Paramyotonia congenita of von Eulenburg	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000393745	SCV000405198	likely benign	Hyperkalemic Periodic Paralysis	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000299674	SCV000405199	likely benign	Potassium aggravated myotonia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000358171	SCV000405200	likely benign	Hypokalemic periodic paralysis	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000489566	SCV000577015	likely benign	not specified	2017-11-30	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.
Invitae	RCV000761997	SCV000658537	likely benign	not provided	2019-02-26	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000576326	SCV000677464	benign	Potassium aggravated myotonia; Paramyotonia congenita of von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic Periodic Paralysis Type 1; Congenital myasthenic syndrome, acetazolamide-responsive	2017-05-31	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000761997	SCV000892230	likely benign	not provided	2018-06-01	criteria provided, single submitter	clinical testing

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