Submissions for variant NM_003000.2(SDHB):c.424-16_424-14dup

dbSNP: rs34261028

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037721	SCV000061383	uncertain significance	not specified	2012-12-06	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The 424-16_424-14du pTTC variant in SDHB has not been previously identified by our laboratory or in the literature. This variant is located in the 3' splice region. Computational t ools do not suggest an impact to splicing. However, this information is not pred ictive enough to rule out pathogenicity. In summary, although this data supports that the 424-16_424-14dupTTC variant may be benign, additional studies are need ed to fully assess its clinical significance.
PreventionGenetics, part of Exact Sciences	RCV000037721	SCV000309331	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000295494	SCV000351421	uncertain significance	Pheochromocytoma	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000352632	SCV000351422	uncertain significance	Carney-Stratakis syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV003103724	SCV000567992	likely benign	not provided	2023-02-03	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Invitae	RCV002054677	SCV002401716	benign	Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma	2024-02-01	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257376	SCV002527075	benign	Hereditary cancer-predisposing syndrome	2020-12-14	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000037721	SCV002760445	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003103724	SCV003799484	likely benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003103724	SCV004123316	likely benign	not provided	2022-06-01	criteria provided, single submitter	clinical testing	SDHB: BP4, BS1
Color Diagnostics, LLC DBA Color Health	RCV003514307	SCV004362275	benign	Paragangliomas 4	2022-09-21	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996328	SCV004814997	benign	Hereditary pheochromocytoma-paraganglioma	2024-02-05	criteria provided, single submitter	clinical testing