ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5205C>T (p.Arg1735=)

gnomAD frequency: 0.00006  dbSNP: rs747836622
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712685 SCV000728353 likely benign not provided 2021-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334009 SCV002641989 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-06-29 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 RCV003762828 SCV004407101 benign FG syndrome 2023-02-16 criteria provided, single submitter clinical testing

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