ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.25T>C (p.Leu9=)

dbSNP: rs1060503768
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001425277 SCV001627903 likely benign Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2020-10-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002259055 SCV002527067 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-06 criteria provided, single submitter curation
Ambry Genetics RCV002259055 SCV002743328 likely benign Hereditary cancer-predisposing syndrome 2022-09-26 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.

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