Submissions for variant NM_000069.3(CACNA1S):c.1611G>A (p.Lys537=)

gnomAD frequency: 0.00001  dbSNP: rs765888271

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000608571	SCV000718915	likely benign	not specified	2017-05-02	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	RCV002529527	SCV003468236	likely benign	Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5	2022-01-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003451397	SCV004179049	likely benign	Malignant hyperthermia, susceptibility to, 5	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003451398	SCV004179050	likely benign	Thyrotoxic periodic paralysis, susceptibility to, 1	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003458471	SCV004179051	likely benign	Congenital myopathy 18	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003451396	SCV004179052	likely benign	Hypokalemic periodic paralysis, type 1	2023-04-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003884657	SCV004701112	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	CACNA1S: BP4