ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1586del (p.Gly529fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004791879 SCV005403817 pathogenic Paragangliomas 5 2024-07-02 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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