Submissions for variant NM_001159699.2(FHL1):c.225C>A (p.Arg75=)

gnomAD frequency: 0.00037  dbSNP: rs143791173

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000597680	SCV000705887	likely benign	not specified	2017-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001697393	SCV000722330	likely benign	not provided	2018-05-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000863467	SCV001004134	likely benign	X-linked myopathy with postural muscle atrophy	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001697393	SCV001471004	likely benign	not provided	2019-12-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002404606	SCV002714866	likely benign	Cardiovascular phenotype	2019-09-08	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.