ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6097A>G (p.Met2033Val)

gnomAD frequency: 0.00006  dbSNP: rs372606012
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721275 SCV000250596 likely benign not provided 2021-05-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV000766104 SCV000897583 uncertain significance X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003595887 SCV002402909 benign FG syndrome 2024-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354550 SCV002659944 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-04-08 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.
PreventionGenetics, part of Exact Sciences RCV003985305 SCV004757598 likely benign MED12-related disorder 2023-04-22 no assertion criteria provided 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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