ClinVar Miner

Submissions for variant GRCh37/hg19 16p11.2(chr16:28497668-28497972)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Molecular and Human Genetics, Baylor College of Medicine RCV001195135 SCV001334093 pathogenic Juvenile neuronal ceroid lipofuscinosis 2020-04-16 no assertion criteria provided clinical testing

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