ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5490A>C (p.Thr1830=)

gnomAD frequency: 0.00005  dbSNP: rs762466624
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000633699 SCV000729209 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315940 SCV000739149 benign Familial thoracic aortic aneurysm and aortic dissection 2017-05-08 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV001513160 SCV001720709 benign FG syndrome 1 2022-10-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985397 SCV004763550 likely benign MED12-related disorder 2020-09-25 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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