Submissions for variant NM_003000.3(SDHB):c.700C>T (p.Leu234=)

gnomAD frequency: 0.00001  dbSNP: rs201728852

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000279182	SCV000351415	likely benign	Hereditary pheochromocytoma-paraganglioma	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000317866	SCV000351416	likely benign	Carney-Stratakis syndrome	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics	RCV000568441	SCV000675073	likely benign	Hereditary cancer-predisposing syndrome	2017-01-23	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	RCV000633984	SCV000755257	likely benign	Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma	2023-12-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002061161	SCV002496464	likely benign	not provided	2022-01-01	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000568441	SCV002527087	likely benign	Hereditary cancer-predisposing syndrome	2021-05-17	criteria provided, single submitter	curation
GeneDx	RCV002061161	SCV002562383	uncertain significance	not provided	2022-07-02	criteria provided, single submitter	clinical testing	In silico analysis supports that this variant does not alter splicing; Identified in individuals with pheochromocytoma or paraganglioma (Ben Aim et al., 2019); Also known as p.L206=; This variant is associated with the following publications: (PMID: 30877234)
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316465	SCV004015419	likely benign	Paragangliomas 4	2023-07-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000279182	SCV004819204	likely benign	Hereditary pheochromocytoma-paraganglioma	2023-12-13	criteria provided, single submitter	clinical testing