ClinVar Miner

Submissions for variant GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)

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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 RCV000626544 SCV000747245 pathogenic Autism; Micrognathia; Low-set ears; Delayed speech and language development; Narrow forehead; Wide nasal bridge; Intellectual disability, mild; Delayed fine motor development 2017-01-01 criteria provided, single submitter clinical testing

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