ClinVar Miner

Submissions for variant NC_000010.11:g.68247363_68253885del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023792 SCV000045083 pathogenic Persistent hyperplastic primary vitreous, autosomal recessive 2011-05-01 no assertion criteria provided literature only
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000023792 SCV000839586 pathogenic Persistent hyperplastic primary vitreous, autosomal recessive 2018-10-10 no assertion criteria provided research

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