Submissions for variant NM_000069.3(CACNA1S):c.2403T>C (p.Phe801=)

gnomAD frequency: 0.43715  dbSNP: rs7415038

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252908	SCV000301817	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000333904	SCV000353053	benign	Hypokalemic periodic paralysis, type 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000252908	SCV000519207	benign	not specified	2016-01-05	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.
Athena Diagnostics	RCV000252908	SCV000612598	benign	not specified	2017-07-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000589684	SCV000695296	benign	not provided	2016-02-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001513365	SCV001720968	benign	Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000333904	SCV001775944	benign	Hypokalemic periodic paralysis, type 1	2021-07-14	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV003517154	SCV004360371	benign	Malignant hyperthermia, susceptibility to, 5	2019-03-28	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003517154	SCV004832376	benign	Malignant hyperthermia, susceptibility to, 5	2024-02-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000589684	SCV005288082	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000252908	SCV001739717	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000252908	SCV001955563	benign	not specified		no assertion criteria provided	clinical testing