ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.6T>A (p.Ala2=)

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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 RCV003808939 SCV004596496 likely benign Gastrointestinal stromal tumor; Paragangliomas 3 2025-01-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006062 SCV004824129 likely benign Hereditary pheochromocytoma-paraganglioma 2023-03-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004950698 SCV005500646 likely benign Hereditary cancer-predisposing syndrome 2024-10-31 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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