ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5316G>A (p.Pro1772=)

gnomAD frequency: 0.00003  dbSNP: rs398124199
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081266 SCV000113174 uncertain significance not provided 2013-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345395 SCV002646786 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-09-16 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 RCV003764766 SCV004651122 benign FG syndrome 2022-12-16 criteria provided, single submitter clinical testing

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