ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.15C>G (p.Val5=)

dbSNP: rs1182998682
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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 RCV001466220 SCV001670220 likely benign Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2024-06-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002405092 SCV002707851 likely benign Hereditary cancer-predisposing syndrome 2021-04-19 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.
CeGaT Center for Human Genetics Tuebingen RCV004809622 SCV005435384 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing SDHB: BP4, BP7

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