ClinVar Miner

Submissions for variant NC_000023.11:g.(18581559_18597843)dup

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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 RCV003140530 SCV003807321 likely pathogenic Developmental and epileptic encephalopathy, 2 2022-09-01 criteria provided, single submitter clinical testing

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