Submissions for variant NM_002485.5(NBN):c.120G>T (p.Ser40=)

gnomAD frequency: 0.00002  dbSNP: rs774989816

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163710	SCV000214284	likely benign	Hereditary cancer-predisposing syndrome	2015-10-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000988090	SCV000259578	likely benign	Microcephaly, normal intelligence and immunodeficiency	2024-12-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000733019	SCV000727878	likely benign	not provided	2019-07-22	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000733019	SCV000861031	uncertain significance	not provided	2018-05-17	criteria provided, single submitter	clinical testing
Mendelics	RCV000988090	SCV001137670	likely benign	Microcephaly, normal intelligence and immunodeficiency	2019-05-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000988090	SCV002045990	likely benign	Microcephaly, normal intelligence and immunodeficiency	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163710	SCV002536577	likely benign	Hereditary cancer-predisposing syndrome	2022-01-12	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000733019	SCV004222116	likely benign	not provided	2023-06-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975231	SCV004798287	likely benign	NBN-related disorder	2021-12-24	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).