ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.492G>A (p.Gln164=)

dbSNP: rs2101521670
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002140963 SCV002462070 likely benign Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2022-08-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346517 SCV002646428 likely benign Hereditary cancer-predisposing syndrome 2020-09-12 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.
PreventionGenetics, part of Exact Sciences RCV004733492 SCV005343936 likely benign SDHB-related disorder 2024-03-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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