Submissions for variant NM_002485.5(NBN):c.37+3A>G

gnomAD frequency: 0.00001  dbSNP: rs764356392

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000432255	SCV000526071	likely benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000473199	SCV000553038	likely benign	Microcephaly, normal intelligence and immunodeficiency	2023-11-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000473199	SCV002046004	uncertain significance	Microcephaly, normal intelligence and immunodeficiency	2021-11-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000582301	SCV002624128	uncertain significance	Hereditary cancer-predisposing syndrome	2023-06-28	criteria provided, single submitter	clinical testing	The c.37+3A>G intronic variant results from an A to G substitution 3 nucleotides after coding exon 1 in the NBN gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003942385	SCV004763491	likely benign	NBN-related disorder	2021-09-27	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).