Submissions for variant NM_000069.3(CACNA1S):c.2745+14C>T

gnomAD frequency: 0.00464  dbSNP: rs74138824

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253492	SCV000301823	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000304630	SCV000353030	likely benign	Hypokalemic periodic paralysis	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000359649	SCV000353031	likely benign	Malignant hyperthermia of anesthesia	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000253492	SCV000717773	likely benign	not specified	2017-11-27	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	RCV002057283	SCV002329195	benign	Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5	2024-01-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003445754	SCV004173192	likely benign	Malignant hyperthermia, susceptibility to, 5	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003445755	SCV004173193	likely benign	Thyrotoxic periodic paralysis, susceptibility to, 1	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003445756	SCV004173194	likely benign	Congenital myopathy 18	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003445753	SCV004173195	likely benign	Hypokalemic periodic paralysis, type 1	2023-04-11	criteria provided, single submitter	clinical testing