Submissions for variant NM_001159699.2(FHL1):c.204+5C>T

gnomAD frequency: 0.00542  dbSNP: rs182106777

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001082220	SCV000287126	benign	X-linked myopathy with postural muscle atrophy	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000429398	SCV000525206	benign	not specified	2016-07-27	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago	RCV000429398	SCV000594777	likely benign	not specified	2016-04-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000231045	SCV001143920	benign	not provided	2019-05-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002399819	SCV002708887	benign	Cardiovascular phenotype	2019-02-28	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000429398	SCV004038044	benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003741166	SCV004562095	benign	Familial hemophagocytic lymphohistiocytosis type 1	2022-12-21	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000429398	SCV001742720	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000231045	SCV001799465	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000429398	SCV001925776	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000429398	SCV001952778	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000429398	SCV001964455	benign	not specified		no assertion criteria provided	clinical testing