ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5593A>G (p.Met1865Val)

gnomAD frequency: 0.00007  dbSNP: rs587778438
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711290 SCV000729559 likely benign not provided 2021-02-02 criteria provided, single submitter clinical testing
Invitae RCV003595866 SCV001198020 benign FG syndrome 2023-10-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004629150 SCV005133845 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-03-18 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.
ITMI RCV000121330 SCV000085503 not provided not specified 2013-09-19 no assertion provided reference population

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