Submissions for variant NM_000069.3(CACNA1S):c.2148C>T (p.Thr716=)

gnomAD frequency: 0.00004  dbSNP: rs747075757

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000428643	SCV000524064	likely benign	not specified	2017-08-11	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000869997	SCV001011462	likely benign	Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5	2023-10-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002488921	SCV002804341	likely benign	Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1	2021-07-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003456068	SCV004177935	likely benign	Malignant hyperthermia, susceptibility to, 5	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003449060	SCV004178915	likely benign	Thyrotoxic periodic paralysis, susceptibility to, 1	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003458429	SCV004178916	likely benign	Congenital myopathy 18	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003449059	SCV004178917	likely benign	Hypokalemic periodic paralysis, type 1	2023-04-11	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003456068	SCV004815806	likely benign	Malignant hyperthermia, susceptibility to, 5	2023-12-18	criteria provided, single submitter	clinical testing