ClinVar Miner

Submissions for variant NM_000073.3:c.70_80del

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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 RCV003142271 SCV003807729 likely pathogenic Combined immunodeficiency due to CD3gamma deficiency 2022-11-25 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 strong, PM2 moderated

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