Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000012276 | SCV000807262 | pathogenic | FG syndrome 1 | 2017-09-01 | criteria provided, single submitter | clinical testing | This variant has been previously reported as disease-causing and was found once in our laboratory de novo in a 5-year-old male with mitochondrial disease, developmental delay, hypogammaglobulinemia, GI dysmotility, hypotonia, scoliosis, strabismus, dysmorphisms, failure to thrive, dilated cardiomyopathy |
Fulgent Genetics, |
RCV000763632 | SCV000894500 | pathogenic | X-linked mental retardation with marfanoid habitus syndrome; FG syndrome 1; Ohdo syndrome, X-linked | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Center for Statistical Genetics, |
RCV001261368 | SCV001438278 | pathogenic | Intellectual disability | 2020-10-16 | criteria provided, single submitter | research | |
Ambry Genetics | RCV001266857 | SCV001445037 | likely pathogenic | Inborn genetic diseases | 2020-06-05 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000012276 | SCV000032510 | pathogenic | FG syndrome 1 | 2008-08-08 | no assertion criteria provided | literature only | |
Gene |
RCV000012276 | SCV000041142 | pathologic | FG syndrome 1 | 2008-06-23 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |
Centre for Mendelian Genomics, |
RCV000415294 | SCV000492674 | pathogenic | Corpus callosum, agenesis of; Imperforate anus; Global developmental delay; Abnormal facial shape; Broad thumb; Intellectual disability | 2016-01-27 | no assertion criteria provided | clinical testing |