ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.48A>C (p.Thr16=)

dbSNP: rs1570963474
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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 RCV000876749 SCV001019361 likely benign Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2024-04-10 criteria provided, single submitter clinical testing
GeneDx RCV001551964 SCV001772572 likely benign not provided 2019-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336856 SCV002635792 likely benign Hereditary cancer-predisposing syndrome 2022-08-08 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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