Submissions for variant NM_003001.5(SDHC):c.*84G>C

gnomAD frequency: 0.00703  dbSNP: rs201210474

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CSER _CC_NCGL, University of Washington	RCV000211525	SCV000212170	likely benign	Pheochromocytoma	2015-03-11	criteria provided, single submitter	research
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000203076	SCV000257750	benign	Paragangliomas 3	2015-02-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001093726	SCV000350269	benign	Hereditary pheochromocytoma-paraganglioma	2018-01-12	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.
CeGaT Center for Human Genetics Tuebingen	RCV000034692	SCV000493607	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SDHC: PP3, BS1, BS2
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000034692	SCV000602173	benign	not provided	2020-10-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000122004	SCV000859979	likely benign	not specified	2018-03-07	criteria provided, single submitter	clinical testing
Invitae	RCV001522524	SCV001732088	benign	Gastrointestinal stromal tumor; Paragangliomas 3	2023-12-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000034692	SCV001860002	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28220018, 24728327)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000034692	SCV002010038	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256015	SCV002527096	benign	Hereditary cancer-predisposing syndrome	2020-10-16	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000122004	SCV002552112	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000034692	SCV000043488	no known pathogenicity	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Benign.
ITMI	RCV000122004	SCV000086215	not provided	not specified	2013-09-19	no assertion provided	reference population