ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5922G>T (p.Gln1974His) (rs879255528)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618781 SCV000739139 uncertain significance Cardiovascular phenotype 2016-02-04 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Insufficient or conflicting evidence;In silico models in agreement (benign);Moderate segregation with disease (at least 3 informative meioses) for rare diseases.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762650 SCV000892984 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing
GeneReviews RCV000239403 SCV000297774 pathogenic FG syndrome 1 2016-08-11 no assertion criteria provided literature only
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital RCV000515779 SCV000611864 benign Intellectual functioning disability 2017-12-06 no assertion criteria provided clinical testing Variant inherited from healthy grandfather of index patient

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