ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.3204C>T (p.Pro1068=)

gnomAD frequency: 0.00104  dbSNP: rs201807437
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000225707 SCV000202990 benign not specified 2015-09-17 criteria provided, single submitter clinical testing
GeneDx RCV000225707 SCV000250568 benign not specified 2014-08-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV003595870 SCV000288798 benign FG syndrome 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004019838 SCV000319435 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-02-16 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.
Genetic Services Laboratory, University of Chicago RCV000225707 SCV002066130 benign not specified 2018-09-12 criteria provided, single submitter clinical testing

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