Submissions for variant NM_005120.3(MED12):c.5805C>T (p.Ser1935=)

gnomAD frequency: 0.00013  dbSNP: rs201608537

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001698391	SCV000534462	likely benign	not provided	2020-06-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313140	SCV000739151	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-10-23	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	RCV003595984	SCV001009493	benign	FG syndrome	2024-01-21	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002502582	SCV002809226	benign	X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type	2022-03-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001698391	SCV004010946	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	MED12: BP4, BP7, BS2