Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
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 |