Submissions for variant NM_003000.3(SDHB):c.18C>A (p.Ala6=)

gnomAD frequency: 0.95374  dbSNP: rs2746462

Total submissions: 21

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037717	SCV000061379	benign	not specified	2011-10-06	criteria provided, single submitter	clinical testing	This variant is classified as benign because it does not change the amino acid a nd is frequent in the general population (rs2746462, MAF >1%).
Eurofins Ntd Llc (ga)	RCV000037717	SCV000111937	benign	not specified	2015-05-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000162442	SCV000212792	benign	Hereditary cancer-predisposing syndrome	2014-11-18	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences	RCV000037717	SCV000309327	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000262815	SCV000351449	benign	Carney-Stratakis syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000329603	SCV000351450	benign	Hereditary pheochromocytoma-paraganglioma	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001705677	SCV000605076	benign	not provided	2023-11-30	criteria provided, single submitter	clinical testing
IntelligeneCG	RCV000262815	SCV000611713	benign	Carney-Stratakis syndrome	2017-08-18	criteria provided, single submitter	clinical testing
Invitae	RCV001523554	SCV001733274	benign	Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001705677	SCV001840405	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807012	SCV002054691	benign	Gastrointestinal stromal tumor	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807013	SCV002054692	benign	Mitochondrial complex 2 deficiency, nuclear type 4	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807011	SCV002054693	benign	Paragangliomas 4	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807010	SCV002054694	benign	Pheochromocytoma	2021-07-15	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001807011	SCV004015413	benign	Paragangliomas 4	2023-07-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001807011	SCV004362287	benign	Paragangliomas 4	2019-03-29	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000037717	SCV001739595	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000037717	SCV001807108	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037717	SCV001918881	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000037717	SCV001930946	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037717	SCV001959773	benign	not specified		no assertion criteria provided	clinical testing