ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6201A>G (p.Gln2067=)

gnomAD frequency: 0.00010  dbSNP: rs375793297
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002310929 SCV000319524 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-03-31 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 RCV003761881 SCV000559587 benign FG syndrome 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV001705392 SCV000731071 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820795 SCV002066132 likely benign not specified 2019-06-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001705392 SCV005093674 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing MED12: BP4, BP7, BS2

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