ClinVar Miner

Submissions for variant GRCh37/hg19 7q11.23(chr7:72772522-74133319)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626538 SCV000747239 pathogenic Short stature; Broad forehead; Delayed speech and language development; Narrow nose; Short nose; Wide mouth; Microcephaly; Long philtrum; Periorbital fullness; Intellectual disability, mild; Delayed gross motor development; Decreased body weight; Upturned corners of mouth; Delayed fine motor development; Thick vermilion border 2017-01-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000767640 SCV000898262 pathogenic Williams syndrome 2018-11-01 criteria provided, single submitter clinical testing

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