ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn)

gnomAD frequency: 0.00002  dbSNP: rs759532414
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003766547 SCV000548700 benign FG syndrome 2023-07-06 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514449 SCV000609810 likely benign not provided 2017-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329049 SCV002628617 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-11-24 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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