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

gnomAD frequency: 0.00003  dbSNP: rs368913305

Total submissions: 6

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)
Labcorp Genetics (formerly Invitae), Labcorp	RCV003761820	SCV000831306	likely benign	FG syndrome	2025-01-29	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: 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.
Revvity Omics, Revvity	RCV000735096	SCV003810872	uncertain significance	not provided	2021-05-27	criteria provided, single submitter	clinical testing