Submissions for variant NM_001008537.3(NEXMIF):c.133G>A (p.Ala45Thr)

gnomAD frequency: 0.00030  dbSNP: rs199960807

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000726308	SCV000343622	uncertain significance	not provided	2016-07-19	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000269889	SCV000595363	uncertain significance	not specified	2016-04-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000726308	SCV000773189	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000726308	SCV001896521	benign	not provided	2020-03-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000269889	SCV002755861	benign	not specified	2017-07-09	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.
CeGaT Center for Human Genetics Tuebingen	RCV000726308	SCV004010948	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	NEXMIF: BP4, BS2