Submissions for variant NM_001159699.2(FHL1):c.489C>T (p.Asp163=)

gnomAD frequency: 0.00162  dbSNP: rs149670651

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000234296	SCV000287130	benign	X-linked myopathy with postural muscle atrophy	2024-01-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000244038	SCV000306902	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000244038	SCV000336616	benign	not specified	2015-11-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001529979	SCV000527964	likely benign	not provided	2021-05-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22523091, 19377476)
Athena Diagnostics	RCV000244038	SCV001475111	benign	not specified	2020-04-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002327126	SCV002629186	likely benign	Cardiovascular phenotype	2019-03-18	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003741167	SCV004564779	likely benign	Familial hemophagocytic lymphohistiocytosis type 1	2023-10-26	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529979	SCV001744402	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000244038	SCV001923509	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000244038	SCV001932212	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000244038	SCV001955643	benign	not specified		no assertion criteria provided	clinical testing