Submissions for variant NM_024301.5(FKRP):c.585C>T (p.Asp195=)

gnomAD frequency: 0.01080  dbSNP: rs75079578

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082179	SCV000114125	benign	not specified	2012-09-21	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082179	SCV000151164	benign	not specified	2015-11-11	criteria provided, single submitter	clinical testing
Invitae	RCV001081711	SCV000290701	benign	Walker-Warburg congenital muscular dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082179	SCV000314270	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000082179	SCV000513039	benign	not specified	2015-07-24	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.
Athena Diagnostics	RCV000576800	SCV000677300	benign	Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	2017-05-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001727566	SCV000885463	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354283	SCV002647668	benign	Cardiovascular phenotype	2018-12-24	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV002505004	SCV002805481	benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	2021-07-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000082179	SCV004038562	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000082179	SCV001921930	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727566	SCV001972080	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001727566	SCV002037013	likely benign	not provided		no assertion criteria provided	clinical testing