ClinVar Miner

Submissions for variant GRCh37/hg19 16p11.2(chr16:29656684-30197341)

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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 RCV000626509 SCV000747210 likely pathogenic Abnormality of the eye; Global developmental delay; Motor delay; Cognitive impairment; Brachycephaly; Delayed speech and language development; Intellectual disability, mild; Generalized hypotonia; Neonatal hypotonia 2017-01-01 criteria provided, single submitter clinical testing

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