Submissions for variant NM_024301.5(FKRP):c.585C>T (p.Asp195=) (rs75079578)

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	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	2019-12-31	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	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 Inc	RCV000576800	SCV000677300	benign	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	2017-05-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV000757298	SCV000885463	benign	none provided	2020-01-31	criteria provided, single submitter	clinical testing