ClinVar Miner

Submissions for variant NM_017841.4(SDHAF2):c.479_482del (p.Tyr160fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003140419 SCV003807100 uncertain significance Paragangliomas 2 2022-07-01 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 moderated, PM2 moderated

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