ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.300T>C (p.Ser100=)

gnomAD frequency: 0.00157  dbSNP: rs11541235
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Total submissions: 21
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151827 SCV000200296 benign not specified 2013-08-01 criteria provided, single submitter clinical testing Ser100Ser in exon 4 of SDHB: This variant is not expected to have clinical signi ficance because it has been identified in 0.4% (31/8600) of European American ch romosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EV S/; dbSNP rs11541235).
Ambry Genetics RCV000162388 SCV000212701 likely benign Hereditary cancer-predisposing syndrome 2014-09-04 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 RCV001079979 SCV000261948 benign Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000364659 SCV000351425 likely benign Carney-Stratakis syndrome 2019-01-28 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 RCV000396922 SCV000351426 likely benign Hereditary pheochromocytoma-paraganglioma 2019-01-28 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.
GeneDx RCV000204883 SCV000724537 benign not provided 2018-05-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27279923, 17848412, 19768395, 19215943, 16912137, 28748451)
CeGaT Center for Human Genetics Tuebingen RCV000204883 SCV001147172 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing SDHB: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000204883 SCV002048082 benign not provided 2023-11-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000151827 SCV002066439 benign not specified 2019-03-28 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000151827 SCV002552196 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492563 SCV002802969 likely benign Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma; Mitochondrial complex 2 deficiency, nuclear type 4 2022-05-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000151827 SCV002819828 benign not specified 2022-12-26 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315939 SCV004015417 benign Paragangliomas 4 2023-07-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003315939 SCV004362278 benign Paragangliomas 4 2022-09-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004532684 SCV004743405 benign SDHB-related disorder 2019-04-17 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000204883 SCV001739573 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000204883 SCV001798226 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000204883 SCV001807518 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000151827 SCV001930363 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000151827 SCV001952376 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000204883 SCV001965420 likely benign not provided no assertion criteria provided clinical testing

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