ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.4851G>A (p.Ala1617=)

gnomAD frequency: 0.00008  dbSNP: rs377210068
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704271 SCV000527108 likely benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Invitae RCV003766306 SCV001725601 benign FG syndrome 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339048 SCV002634874 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-09-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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