Submissions for variant NM_003000.3(SDHB):c.300T>C (p.Ser100=)

gnomAD frequency: 0.00157  dbSNP: rs11541235

Total submissions: 21

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151827	SCV000200296	benign	not specified	2013-08-01	criteria provided, single submitter	clinical testing	Ser100Ser in exon 4 of SDHB: This variant is not expected to have clinical signi ficance because it has been identified in 0.4% (31/8600) of European American ch romosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EV S/; dbSNP rs11541235).
Ambry Genetics	RCV000162388	SCV000212701	likely benign	Hereditary cancer-predisposing syndrome	2014-09-04	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.
Invitae	RCV001079979	SCV000261948	benign	Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000364659	SCV000351425	likely benign	Carney-Stratakis syndrome	2019-01-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000396922	SCV000351426	likely benign	Hereditary pheochromocytoma-paraganglioma	2019-01-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000204883	SCV000724537	benign	not provided	2018-05-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27279923, 17848412, 19768395, 19215943, 16912137, 28748451)
CeGaT Center for Human Genetics Tuebingen	RCV000204883	SCV001147172	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	SDHB: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000204883	SCV002048082	benign	not provided	2023-11-13	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000151827	SCV002066439	benign	not specified	2019-03-28	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000151827	SCV002552196	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492563	SCV002802969	likely benign	Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma; Mitochondrial complex 2 deficiency, nuclear type 4	2022-05-24	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000151827	SCV002819828	benign	not specified	2022-12-26	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315939	SCV004015417	benign	Paragangliomas 4	2023-07-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV003315939	SCV004362278	benign	Paragangliomas 4	2022-09-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004532684	SCV004743405	benign	SDHB-related disorder	2019-04-17	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000204883	SCV001739573	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000204883	SCV001798226	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000204883	SCV001807518	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000151827	SCV001930363	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000151827	SCV001952376	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000204883	SCV001965420	likely benign	not provided		no assertion criteria provided	clinical testing