Submissions for variant NM_001159699.2(FHL1):c.737-3del

dbSNP: rs368428875

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179823	SCV000232137	likely benign	not specified	2014-11-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000230834	SCV000287132	benign	X-linked myopathy with postural muscle atrophy	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000179823	SCV000306903	likely benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000179823	SCV001475112	benign	not specified	2020-07-13	criteria provided, single submitter	clinical testing
GeneDx	RCV001651048	SCV001866657	benign	not provided	2016-10-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362923	SCV002662939	likely benign	Cardiovascular phenotype	2019-01-28	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001651048	SCV001927571	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000179823	SCV001955276	benign	not specified		no assertion criteria provided	clinical testing