ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.24C>T (p.Ser8=)

gnomAD frequency: 0.00461  dbSNP: rs148738139
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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163384 SCV000213924 likely benign Hereditary cancer-predisposing syndrome 2014-08-03 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.
Eurofins Ntd Llc (ga) RCV000173293 SCV000224390 likely benign not specified 2014-11-06 criteria provided, single submitter clinical testing
Invitae RCV000757751 SCV000261877 benign Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000173293 SCV000309329 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000361344 SCV000351445 benign Hereditary pheochromocytoma-paraganglioma 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 Laboratory Services, Illumina RCV000403540 SCV000351446 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001312066 SCV000886091 benign not provided 2023-10-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001312066 SCV001502502 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing SDHB: BP4, BS2
GeneDx RCV001312066 SCV001845715 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001312066 SCV002010046 likely benign not provided 2021-11-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000173293 SCV002066351 benign not specified 2018-01-25 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000173293 SCV002552274 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000173293 SCV002774047 benign not specified 2021-02-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003514321 SCV004362285 benign Paragangliomas 4 2022-09-20 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001312066 SCV001799656 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000173293 SCV001809348 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000173293 SCV001955041 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001312066 SCV001976232 likely benign not provided no assertion criteria provided clinical testing

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