ClinVar Miner

Submissions for variant NM_018328.4:c.-925+35305_-557+13791del

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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 RCV002509900 SCV002818558 uncertain significance Intellectual disability, autosomal dominant 1 2022-09-14 no assertion criteria provided clinical testing There is another report of a deletion entirely within the 5'UTR while sparing exon 1 (PMID 28944244) with some phenotypic similarities to this patient and her mother. Note that mother of patient, who carries the deletion, has history of some psychiatric concerns, fainting episodes, obesity, and sleep apnea

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