Submissions for variant NM_000381.4(MID1):c.1230C>T (p.Ser410=)

gnomAD frequency: 0.06185  dbSNP: rs16986145

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078675	SCV000110535	benign	not specified	2012-10-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311554	SCV000846878	benign	Inborn genetic diseases	2014-12-13	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.
GeneDx	RCV001719817	SCV001948319	benign	not provided	2021-05-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001719817	SCV002401638	benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001719817	SCV005279119	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000078675	SCV000151851	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.