Submissions for variant NM_024301.5(FKRP):c.1236C>T (p.His412=)

gnomAD frequency: 0.00004  dbSNP: rs201076863

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000732907	SCV000860905	uncertain significance	not provided	2018-04-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086434	SCV001006303	likely benign	Walker-Warburg congenital muscular dystrophy	2025-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002360859	SCV002662142	likely benign	Cardiovascular phenotype	2020-04-13	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.	RCV001830628	SCV002091343	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2I	2021-08-12	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535860	SCV004709291	likely benign	FKRP-related disorder	2021-03-12	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).