Submissions for variant NM_000051.4(ATM):c.5352C>T (p.Asn1784=)

gnomAD frequency: 0.00006  dbSNP: rs140641762

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000162510	SCV000212901	likely benign	Hereditary cancer-predisposing syndrome	2015-05-08	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	RCV000988695	SCV000558435	likely benign	Ataxia-telangiectasia syndrome	2024-01-28	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000162510	SCV000682264	likely benign	Hereditary cancer-predisposing syndrome	2016-08-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000732576	SCV000714708	likely benign	not provided	2021-03-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21933854)
Eurofins Ntd Llc (ga)	RCV000732576	SCV000860546	uncertain significance	not provided	2018-04-10	criteria provided, single submitter	clinical testing
Mendelics	RCV000988695	SCV001138519	likely benign	Ataxia-telangiectasia syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000732576	SCV001475561	likely benign	not provided	2019-12-10	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000162510	SCV002528431	likely benign	Hereditary cancer-predisposing syndrome	2021-01-31	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000732576	SCV002774251	likely benign	not provided	2021-08-18	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004589675	SCV005083946	benign	Familial cancer of breast	2024-05-23	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004700498	SCV005203543	likely benign	not specified	2024-07-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004551378	SCV004784846	likely benign	ATM-related disorder	2020-01-15	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).