ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.496C>G (p.Leu166Val)

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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 Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV005055478 SCV005689604 uncertain significance Hereditary pheochromocytoma-paraganglioma 2025-01-24 criteria provided, single submitter clinical testing The following ACMG criteria have been used in classification: PM2_SUP

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