ClinVar Miner

Submissions for variant NC_000005.10:g.88846693_89051376delinsG

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000735228 SCV000863437 pathogenic Intellectual disability, autosomal dominant 20 2017-08-11 criteria provided, single submitter clinical testing 200kb deletion that includes exon 1

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