Submissions for variant NM_024301.5(FKRP):c.531G>A (p.Glu177=)

gnomAD frequency: 0.00057  dbSNP: rs768007208

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725725	SCV000338875	uncertain significance	not provided	2017-09-14	criteria provided, single submitter	clinical testing
Invitae	RCV001081894	SCV000559436	likely benign	Walker-Warburg congenital muscular dystrophy	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000725725	SCV000722780	likely benign	not provided	2021-04-08	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000725725	SCV001475117	likely benign	not provided	2020-08-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002348001	SCV002646800	likely benign	Cardiovascular phenotype	2019-09-20	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.
Revvity Omics, Revvity	RCV000725725	SCV003832615	likely benign	not provided	2023-08-25	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330623	SCV004038560	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001828220	SCV002088957	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2I	2019-11-11	no assertion criteria provided	clinical testing