Submissions for variant NM_000143.4(FH):c.648T>A (p.Asp216Glu)

gnomAD frequency: 0.00001  dbSNP: rs199536615

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000564564	SCV000673353	benign	Hereditary cancer-predisposing syndrome	2023-11-16	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001529212	SCV000834540	likely benign	not provided	2025-01-20	criteria provided, single submitter	clinical testing
GeneDx	RCV001529212	SCV001764533	uncertain significance	not provided	2024-10-21	criteria provided, single submitter	clinical testing	In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genetic Services Laboratory, University of Chicago	RCV001821687	SCV002067544	uncertain significance	not specified	2018-10-25	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001821687	SCV004243528	uncertain significance	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV005248291	SCV005896455	likely benign	Hereditary leiomyomatosis and renal cell cancer	2024-10-18	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529212	SCV001742293	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001529212	SCV001807472	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001529212	SCV001953236	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000705539	SCV002085856	uncertain significance	Fumarase deficiency	2020-08-12	no assertion criteria provided	clinical testing