Submissions for variant NM_003000.3(SDHB):c.287-4T>C

gnomAD frequency: 0.00001  dbSNP: rs200419171

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000457902	SCV000563758	likely benign	Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000563461	SCV000675064	benign	Hereditary cancer-predisposing syndrome	2020-03-30	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.
GeneDx	RCV000604153	SCV000732854	likely benign	not specified	2018-01-15	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001810969	SCV001477865	likely benign	not provided	2020-02-18	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000563461	SCV002527068	likely benign	Hereditary cancer-predisposing syndrome	2021-03-19	criteria provided, single submitter	curation