ClinVar Miner

Submissions for variant NC_000014.9:g.(21329937_21330486)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 RCV003140598 SCV003807517 pathogenic Cone-rod dystrophy 13 2022-11-25 criteria provided, single submitter clinical testing

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