Submissions for variant NM_000540.3(RYR1):c.7926+28A>G

gnomAD frequency: 0.34603  dbSNP: rs1469699

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000254503	SCV000305032	benign	not specified	2013-10-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000119735	SCV000969897	benign	not provided	2018-06-14	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.
Genome-Nilou Lab	RCV001795194	SCV002032922	benign	Central core myopathy	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001795196	SCV002032923	benign	King Denborough syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001795195	SCV002032924	benign	Congenital multicore myopathy with external ophthalmoplegia	2021-11-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000119735	SCV005310825	benign	not provided		criteria provided, single submitter	not provided
Leiden Muscular Dystrophy (RYR1)	RCV000119735	SCV000154642	not provided	not provided		no assertion provided	not provided