Submissions for variant NM_022787.4(NMNAT1):c.115+3A>G

gnomAD frequency: 0.00447  dbSNP: rs181504239

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625321	SCV000744934	likely benign	Leber congenital amaurosis 9	2017-06-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000625321	SCV001020991	benign	Leber congenital amaurosis 9	2025-02-03	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000625321	SCV001367760	likely benign	Leber congenital amaurosis 9	2019-03-27	criteria provided, single submitter	clinical testing	This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: BS1,BP4.
CeGaT Center for Human Genetics Tuebingen	RCV003424194	SCV004128338	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	NMNAT1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV003424194	SCV005257466	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001700421	SCV001923426	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905671	SCV004719780	benign	NMNAT1-related disorder	2019-07-18	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).