Submissions for variant NM_004168.4(SDHA):c.456+20G>C

gnomAD frequency: 0.00385  dbSNP: rs193283468

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253864	SCV000310001	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000253864	SCV000518990	benign	not specified	2016-03-08	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001516477	SCV001724762	benign	Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5	2025-02-04	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000253864	SCV002550444	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002338802	SCV002636121	benign	Hereditary cancer-predisposing syndrome	2015-07-06	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001528624	SCV003800003	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316405	SCV004015390	benign	Paragangliomas 5	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001528624	SCV005302874	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528624	SCV001740644	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000253864	SCV001808740	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000253864	SCV001954121	benign	not specified		no assertion criteria provided	clinical testing