ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.65G>C (p.Cys22Ser) (rs141230910)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206152 SCV000261872 likely benign Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2020-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573095 SCV000675060 likely benign Hereditary cancer-predisposing syndrome 2018-08-24 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000596063 SCV000702012 uncertain significance not provided 2016-10-24 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000596063 SCV001147173 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001095936 SCV001252116 benign Carney-Stratakis syndrome 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.
Illumina Clinical Services Laboratory,Illumina RCV001101396 SCV001258000 benign Hereditary Paraganglioma-Pheochromocytoma Syndromes 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.
GeneDx RCV000596063 SCV001786016 uncertain significance not provided 2021-05-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30171174, 25801821, 17376234, 26273102, 29386252)

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