Submissions for variant NM_024301.5(FKRP):c.567C>T (p.Pro189=)

gnomAD frequency: 0.00144  dbSNP: rs201454433

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000254084	SCV000314269	benign	not specified	2016-03-25	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000725158	SCV000334550	uncertain significance	not provided	2017-07-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000725158	SCV000535732	likely benign	not provided	2020-11-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 14647208)
Invitae	RCV001085023	SCV000559444	benign	Walker-Warburg congenital muscular dystrophy	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002347967	SCV002652429	likely benign	Cardiovascular phenotype	2019-02-05	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	RCV000725158	SCV004139818	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	FKRP: BP4, BP7
Natera, Inc.	RCV001828147	SCV002088962	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2I	2019-10-24	no assertion criteria provided	clinical testing