Submissions for variant NM_002485.5(NBN):c.415A>G (p.Thr139Ala)

gnomAD frequency: 0.00001  dbSNP: rs543852763

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000165497	SCV000216228	likely benign	Hereditary cancer-predisposing syndrome	2019-01-04	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.
Invitae	RCV000168457	SCV000219155	likely benign	Microcephaly, normal intelligence and immunodeficiency	2024-01-16	criteria provided, single submitter	clinical testing
GeneDx	RCV001706081	SCV000279946	likely benign	not provided	2020-12-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28135145, 27997549)
Counsyl	RCV000168457	SCV000799505	likely benign	Microcephaly, normal intelligence and immunodeficiency	2018-04-23	criteria provided, single submitter	clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV002225484	SCV002505315	uncertain significance	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000165497	SCV002536678	likely benign	Hereditary cancer-predisposing syndrome	2021-10-04	criteria provided, single submitter	curation
Natera, Inc.	RCV000168457	SCV002078658	likely benign	Microcephaly, normal intelligence and immunodeficiency	2020-03-15	no assertion criteria provided	clinical testing