Submissions for variant NM_147196.3(TMIE):c.367AAG[6] (p.Lys129_Lys131del)

dbSNP: rs10578999

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000223108	SCV000269876	benign	not specified	2015-02-12	criteria provided, single submitter	clinical testing	p.Lys129_Lys131del in Exon 4 of TMIE: This variant is not expected to have clini cal significance because it results in an in-frame deletion of 3 lysine (Lys) re sidues in a nonconserved lysine tract and does not alter the amino acid reading frame. It has been identified in 0.4% (62/15930) of South Asian chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org).
Eurofins Ntd Llc (ga)	RCV000727294	SCV000707351	uncertain significance	not provided	2017-04-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000727294	SCV001780805	likely benign	not provided	2020-09-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000727294	SCV002351069	likely benign	not provided	2024-01-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003929881	SCV004740995	likely benign	TMIE-related disorder	2019-11-14	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).