Submissions for variant NM_024301.5(FKRP):c.885C>T (p.Arg295=)

gnomAD frequency: 0.00022  dbSNP: rs769005880

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000394110	SCV000343579	uncertain significance	not provided	2016-07-01	criteria provided, single submitter	clinical testing
Invitae	RCV001083609	SCV000630848	likely benign	Walker-Warburg congenital muscular dystrophy	2024-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000394110	SCV000981983	likely benign	not provided	2020-06-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002446530	SCV002682760	likely benign	Cardiovascular phenotype	2019-05-28	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Natera, Inc.	RCV001275317	SCV001460342	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2I	2019-12-24	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001729511	SCV001978775	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000394110	SCV001979983	likely benign	not provided		no assertion criteria provided	clinical testing