Submissions for variant NM_024301.5(FKRP):c.954C>T (p.Cys318=)

gnomAD frequency: 0.00012  dbSNP: rs755968761

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178361	SCV000230427	uncertain significance	not provided	2015-04-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085557	SCV000630850	likely benign	Walker-Warburg congenital muscular dystrophy	2024-10-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000178361	SCV001757158	likely benign	not provided	2021-04-15	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001818438	SCV002065975	uncertain significance	not specified	2017-07-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002372094	SCV002690746	likely benign	Cardiovascular phenotype	2022-01-25	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.
CeGaT Center for Human Genetics Tuebingen	RCV000178361	SCV004139820	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	FKRP: BP4, BP7