ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.552C>T (p.Tyr184=)

gnomAD frequency: 0.00004  dbSNP: rs202098600
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559101 SCV000630716 likely benign Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561124 SCV000664559 likely benign Hereditary cancer-predisposing syndrome 2016-04-22 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.
GeneDx RCV001672828 SCV001891952 likely benign not provided 2020-10-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000561124 SCV002527084 benign Hereditary cancer-predisposing syndrome 2021-07-14 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268142 SCV002552545 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001672828 SCV004220333 benign not provided 2023-09-20 criteria provided, single submitter clinical testing

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