Submissions for variant NM_002485.5(NBN):c.38-10T>A

gnomAD frequency: 0.00015  dbSNP: rs556807466

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000733762	SCV000170638	likely benign	not provided	2020-07-14	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24549055, 26315354)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000200594	SCV000253389	likely benign	Microcephaly, normal intelligence and immunodeficiency	2024-12-12	criteria provided, single submitter	clinical testing
Vantari Genetics	RCV000127085	SCV000267063	likely benign	Hereditary cancer-predisposing syndrome	2015-11-17	criteria provided, single submitter	clinical testing
Counsyl	RCV000200594	SCV000790547	uncertain significance	Microcephaly, normal intelligence and immunodeficiency	2017-03-28	criteria provided, single submitter	clinical testing
Mendelics	RCV000200594	SCV000838324	uncertain significance	Microcephaly, normal intelligence and immunodeficiency	2018-07-02	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000733762	SCV000861859	uncertain significance	not provided	2018-06-21	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000733762	SCV000888339	likely benign	not provided	2022-02-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000200594	SCV002045997	likely benign	Microcephaly, normal intelligence and immunodeficiency	2021-11-07	criteria provided, single submitter	clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV002225409	SCV002505320	likely benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000127085	SCV002536672	likely benign	Hereditary cancer-predisposing syndrome	2021-03-08	criteria provided, single submitter	curation