ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.897_1260+1del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Memorial Sloan Kettering Cancer Center RCV000722176 SCV000778379 pathogenic Paragangliomas 5 2018-06-06 criteria provided, single submitter clinical testing This mutation was observed in patients with uterus and stomach cancer. These tumors retained SDHA/B staining by IHC. Additional functional work supported this as loss of function variant. Thus it appears this is a pathogenic variant but may not play a role in the tumor genesis for these specific tumors.

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