Submissions for variant NM_003000.3(SDHB):c.21C>T (p.Leu7=)

gnomAD frequency: 0.00054  dbSNP: rs147815442

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000162462	SCV000212820	likely benign	Hereditary cancer-predisposing syndrome	2014-07-03	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	RCV001080864	SCV000287765	benign	Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000298176	SCV000351447	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000355406	SCV000351448	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.
GeneDx	RCV000232093	SCV000724260	likely benign	not provided	2021-01-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 12362046)
CeGaT Center for Human Genetics Tuebingen	RCV000232093	SCV001147174	uncertain significance	not provided	2019-05-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000614565	SCV002066299	likely benign	not specified	2020-02-26	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000162462	SCV002527064	likely benign	Hereditary cancer-predisposing syndrome	2021-07-14	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000614565	SCV004024768	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV003514318	SCV004362286	benign	Paragangliomas 4	2022-11-08	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000614565	SCV001809053	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000614565	SCV001930700	benign	not specified		no assertion criteria provided	clinical testing