ClinVar Miner

Submissions for variant NM_001270974.2(HYDIN):c.3829_3832del (p.Leu1277fs)

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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 RCV003142326 SCV003807855 likely pathogenic Primary ciliary dyskinesia 5 2022-06-21 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated

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