ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.18C>A (p.Ala6=) (rs2746462)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037717 SCV000061379 benign not specified 2011-10-06 criteria provided, single submitter clinical testing This variant is classified as benign because it does not change the amino acid a nd is frequent in the general population (rs2746462, MAF >1%).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000037717 SCV000111937 benign not specified 2015-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162442 SCV000212792 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
PreventionGenetics,PreventionGenetics RCV000037717 SCV000309327 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262815 SCV000351449 benign Carney-Stratakis syndrome 2018-01-13 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.
Illumina Clinical Services Laboratory,Illumina RCV000329603 SCV000351450 benign Hereditary Paraganglioma-Pheochromocytoma Syndromes 2018-01-13 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282787 SCV000605076 benign none provided 2020-08-27 criteria provided, single submitter clinical testing
IntelligeneCG RCV000262815 SCV000611713 benign Carney-Stratakis syndrome 2017-08-18 criteria provided, single submitter clinical testing
Invitae RCV001523554 SCV001733274 benign Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2020-12-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000037717 SCV001739595 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000037717 SCV001807108 benign not specified no assertion criteria provided clinical testing

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