ClinVar Miner

Submissions for variant NC_000004.12:g.(99601399_99613000)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 RCV003142276 SCV003807741 pathogenic Abetalipoproteinaemia 2022-11-05 criteria provided, single submitter clinical testing

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