ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.381G>A (p.Thr127=)

gnomAD frequency: 0.00039  dbSNP: rs202125318
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724071 SCV000229065 uncertain significance not provided 2014-07-22 criteria provided, single submitter clinical testing
GeneDx RCV000177224 SCV000518836 likely benign not specified 2017-10-31 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.
Ambry Genetics RCV002314627 SCV000739143 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-04-15 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003761803 SCV000754969 benign FG syndrome 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724071 SCV004165336 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing MED12: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences RCV003985287 SCV004773276 likely benign MED12-related disorder 2020-09-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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