ClinVar Miner

Submissions for variant NC_000023.10:g.(113050826_113097589)_(114931342_114941807)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000191154 SCV000245563 pathogenic Bone mineral density quantitative trait locus 18 2014-11-05 criteria provided, single submitter clinical testing This deletion was found once in our laboratory maternally inherited in a 33-year-old male with recurrent fractures, mild developmental disability, epilepsy, and a similarly affected brother [not tested].

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