ClinVar Miner

Submissions for variant GRCh37/hg19 22q11.22(chr22:22320654-22566334)x1

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cytogenetics Laboratory, University of Washington RCV000203428 SCV000258556 uncertain significance See cases 2015-06-01 criteria provided, single submitter clinical testing Patient also had dupX(6,477,550-8,119,329)x2
Molecular Pathology Laboratory, Cleveland Clinic RCV000993709 SCV000999015 likely pathogenic Autism 2018-08-01 criteria provided, single submitter clinical testing Three sibs with autism; variant inherited from apparently unaffected father

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