ClinVar Miner

Submissions for variant NC_000017.11:g.(63914995_63921260)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 RCV003142283 SCV003807760 pathogenic Ateleiotic dwarfism 2022-09-17 criteria provided, single submitter clinical testing

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