Submissions for variant NM_003000.3(SDHB):c.543C>T (p.Asp181=)

gnomAD frequency: 0.00009  dbSNP: rs199809975

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082193	SCV000563762	likely benign	Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma	2025-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000561330	SCV000675072	likely benign	Hereditary cancer-predisposing syndrome	2016-08-01	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.
GeneDx	RCV000841202	SCV000983160	likely benign	not provided	2018-03-26	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.
CeGaT Center for Human Genetics Tuebingen	RCV000841202	SCV001147170	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	SDHB: BP4, BP7
Color Diagnostics, LLC DBA Color Health	RCV003514367	SCV004362271	likely benign	Paragangliomas 4	2022-10-20	criteria provided, single submitter	clinical testing