ClinVar Miner

Submissions for variant GRCh37/hg19 22q11.22-11.23(chr22:22971867-23643138)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Research Group, Karolinska Institutet RCV000986107 SCV000930655 pathogenic Imperforate anus; Abnormality of the vertebral column; Ventricular septal defect 2019-05-01 no assertion criteria provided research

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