Submissions for variant NM_000381.4(MID1):c.2000C>T (p.Pro667Leu)

gnomAD frequency: 0.00240  dbSNP: rs147106995

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078680	SCV000110540	benign	not specified	2013-10-16	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000078680	SCV000151852	benign	not specified	2015-02-23	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000659859	SCV000604226	benign	X-linked Opitz G/BBB syndrome	2023-08-07	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659859	SCV000781739	uncertain significance	X-linked Opitz G/BBB syndrome	2016-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311555	SCV000847177	benign	Inborn genetic diseases	2015-08-14	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.
Invitae	RCV000950878	SCV001097218	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000950878	SCV004166096	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	MID1: BS2