ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.1248+15T>C

gnomAD frequency: 0.00307  dbSNP: rs187377817
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000193778 SCV000170240 benign not specified 2014-06-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000193778 SCV000248013 uncertain significance not specified 2013-06-12 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514187 SCV000609921 likely benign not provided 2017-06-21 criteria provided, single submitter clinical testing
Invitae RCV003761774 SCV002403984 benign FG syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390286 SCV002669682 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-06-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000514187 SCV001743839 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000193778 SCV001929374 benign not specified no assertion criteria provided clinical testing

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