Submissions for variant NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr)

gnomAD frequency: 0.00705  dbSNP: rs145018752

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000441910	SCV000511651	likely benign	not provided	2017-01-02	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000441910	SCV000653806	benign	not provided	2025-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000117389	SCV000842557	benign	not specified	2024-09-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000117389	SCV000846804	benign	not specified	2014-11-24	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	RCV000441910	SCV001835188	benign	not provided	2020-08-10	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV005229920	SCV005875897	benign	X-linked intellectual disability, Cantagrel type	2024-09-17	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117389	SCV000151573	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.