Submissions for variant NM_005120.3(MED12):c.5535C>T (p.Asn1845=) (rs34784349)

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000081267	SCV000113175	benign	not specified	2013-05-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000081267	SCV000170239	benign	not specified	2014-05-23	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.
PreventionGenetics,PreventionGenetics	RCV000081267	SCV000310839	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000243489	SCV000319456	benign	Cardiovascular phenotype	2014-11-25	criteria provided, single submitter	clinical testing
Invitae	RCV000460000	SCV000559588	benign	FG syndrome 1	2019-12-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000716061	SCV000846894	benign	History of neurodevelopmental disorder	2014-11-25	criteria provided, single submitter	clinical testing
Genetic Services Laboratory,University of Chicago	RCV000081267	SCV000151829	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.