ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) (rs80338758)

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Total submissions: 5
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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,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
OMIM RCV000012276 SCV000032510 pathogenic FG syndrome 1 2008-08-08 no assertion criteria provided literature only
GeneReviews RCV000012276 SCV000041142 pathologic FG syndrome 1 2008-06-23 no assertion criteria provided curation Converted during submission to Pathogenic.
Centre for Mendelian Genomics,University Medical Centre Ljubljana 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

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