Submissions for variant NM_000381.4(MID1):c.498G>A (p.Pro166=)

gnomAD frequency: 0.00376  dbSNP: rs7391874

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078681	SCV000110541	benign	not specified	2013-10-24	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000078681	SCV000151850	benign	not specified	2016-08-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313748	SCV000847851	benign	Inborn genetic diseases	2016-08-31	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000974377	SCV001122198	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000974377	SCV001902979	benign	not provided	2021-05-04	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490679	SCV002795003	likely benign	X-linked Opitz G/BBB syndrome	2021-09-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000974377	SCV005279127	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003905042	SCV004724240	benign	MID1-related disorder	2019-03-27	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).