ClinVar Miner

Submissions for variant NC_000015.10:g.22698177_(23120963_23380983)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV003221323 SCV003915657 pathogenic Chromosome 15q11.2 deletion syndrome 2021-03-05 criteria provided, single submitter clinical testing The 15q11.2 BP1-BP2 deletion identified here is an interstitial deletion on the long arm of chromosome 15. The 15q proximal region contains a cluster of low copy repeats that lead to recurrent copy number changes in this region. Deletions in this region are associated with 15q11.2 BP1-BP2 recurrent deletion syndrome.

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