ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)

gnomAD frequency: 0.00002  dbSNP: rs368913305
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000735096 SCV000250601 uncertain significance not provided 2020-10-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 213632; Landrum et al., 2016)
Invitae RCV003761820 SCV000831306 likely benign FG syndrome 2023-12-05 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000735096 SCV000863291 uncertain significance not provided 2018-09-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000766103 SCV000897582 uncertain significance X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408870 SCV002675507 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-07-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Revvity Omics, Revvity Omics RCV000735096 SCV003810872 uncertain significance not provided 2021-05-27 criteria provided, single submitter clinical testing

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