ClinVar Miner

Submissions for variant NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)

gnomAD frequency: 0.00188  dbSNP: rs140926412
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414875 SCV000492804 likely benign Scoliosis; Hemivertebrae; Missing ribs; Supernumerary ribs 2014-02-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091141 SCV001247012 pathogenic not provided 2017-07-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000023555 SCV001441021 likely pathogenic Klippel-Feil syndrome 3, autosomal dominant 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000023555 SCV002998092 likely benign Klippel-Feil syndrome 3, autosomal dominant 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003924856 SCV004747301 benign GDF3-related disorder 2019-11-13 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
OMIM RCV000023555 SCV000044846 pathogenic Klippel-Feil syndrome 3, autosomal dominant 2010-01-15 no assertion criteria provided literature only
OMIM RCV000023556 SCV004697471 pathogenic Microphthalmia, isolated, with coloboma 6 2010-01-15 no assertion criteria provided literature only

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