ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.-32-5232_878-647del

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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 RCV002247745 SCV002516005 likely pathogenic X-linked lymphoproliferative disease due to XIAP deficiency 2021-12-06 criteria provided, single submitter clinical testing

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