ClinVar Miner

Submissions for variant NC_000009.12:g.(333421_334903)del

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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 RCV003142497 SCV003806993 likely pathogenic Combined immunodeficiency due to DOCK8 deficiency 2023-01-16 criteria provided, single submitter clinical testing

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