ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.4299T>C (p.Ala1433=)

gnomAD frequency: 0.00002  dbSNP: rs763359998
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423797 SCV000532848 likely benign not specified 2016-10-20 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.
Invitae RCV003595980 SCV001719888 benign FG syndrome 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002328986 SCV002629693 likely benign Familial thoracic aortic aneurysm and aortic dissection 2014-09-18 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.

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