ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2613G>A (p.Gln871=)

gnomAD frequency: 0.00047  dbSNP: rs372344160
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726879 SCV000703799 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000726879 SCV000719422 benign not provided 2020-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315888 SCV000739157 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-01-16 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.
Invitae RCV003596049 SCV001005616 benign FG syndrome 2023-12-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726879 SCV004165345 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing MED12: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003985382 SCV004782350 likely benign MED12-related disorder 2020-04-29 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).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000726879 SCV001978048 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000726879 SCV001980607 likely benign not provided no assertion criteria provided clinical testing

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