Submissions for variant NM_024301.5(FKRP):c.54T>A (p.Leu18=)

gnomAD frequency: 0.00008  dbSNP: rs565563742

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000319756	SCV000343231	uncertain significance	not provided	2016-07-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085217	SCV001009898	likely benign	Walker-Warburg congenital muscular dystrophy	2024-01-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000319756	SCV002543948	likely benign	not provided	2022-06-01	criteria provided, single submitter	clinical testing	FKRP: BP4, BP7
Ambry Genetics	RCV002348018	SCV002650175	benign	Cardiovascular phenotype	2021-08-04	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.
Natera, Inc.	RCV001828260	SCV002088926	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2I	2020-11-29	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535418	SCV004713477	likely benign	FKRP-related disorder	2022-06-10	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).