Submissions for variant NM_000070.3(CAPN3):c.939G>A (p.Pro313=)

gnomAD frequency: 0.00698  dbSNP: rs78369269

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000116547	SCV000301899	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000116547	SCV000527059	benign	not specified	2017-09-26	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	RCV001085863	SCV000645519	benign	Autosomal recessive limb-girdle muscular dystrophy type 2A	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711023	SCV000841341	benign	not provided	2017-11-09	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000711023	SCV005214521	likely benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116547	SCV000150504	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc.	RCV001085863	SCV001454330	benign	Autosomal recessive limb-girdle muscular dystrophy type 2A	2020-09-16	no assertion criteria provided	clinical testing