ClinVar Miner

Submissions for variant GRCh37/hg19 22q11.21(chr22:18894835-20311763)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626527 SCV000747228 pathogenic Astigmatism; Velopharyngeal insufficiency; Inguinal hernia; Feeding difficulties; Vomiting; Umbilical hernia; Speech articulation difficulties; Ectopic thymus tissue; Abnormal soft palate morphology 2017-01-01 criteria provided, single submitter clinical testing

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