Submissions for variant NM_024301.5(FKRP):c.1440C>T (p.Asn480=)

gnomAD frequency: 0.00213  dbSNP: rs115365212

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082173	SCV000114119	benign	not specified	2012-11-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001704005	SCV000525535	likely benign	not provided	2020-09-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27439679)
Invitae	RCV000465660	SCV000559440	benign	Walker-Warburg congenital muscular dystrophy	2024-01-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082173	SCV000594782	likely benign	not specified	2016-10-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390243	SCV002699350	likely benign	Cardiovascular phenotype	2019-01-08	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	RCV001704005	SCV004139823	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	FKRP: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV000082173	SCV001917302	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001704005	SCV001964345	likely benign	not provided		no assertion criteria provided	clinical testing