Submissions for variant NM_000051.4(ATM):c.3403-13dup

dbSNP: rs3218681

Total submissions: 20

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000159614	SCV000183913	benign	Hereditary cancer-predisposing syndrome	2012-12-18	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
GeneDx	RCV000159614	SCV000209599	benign	Hereditary cancer-predisposing syndrome	2014-01-31	criteria provided, single submitter	clinical testing	The variant is found in HEREDICANCER,BR-OV-HEREDIC,COLO-HEREDIC panel(s).
Genetic Services Laboratory, University of Chicago	RCV000192572	SCV000246616	likely benign	not specified	2015-07-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000192572	SCV000301662	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000286085	SCV000367047	benign	Ataxia-telangiectasia syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000192572	SCV000538365	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Color Diagnostics, LLC DBA Color Health	RCV000159614	SCV000682128	benign	Hereditary cancer-predisposing syndrome	2015-03-31	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000159614	SCV000687474	benign	Hereditary cancer-predisposing syndrome	2015-04-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000286085	SCV001775307	benign	Ataxia-telangiectasia syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001618317	SCV002010827	benign	not provided	2021-11-03	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798541	SCV002042093	benign	Breast and/or ovarian cancer	2021-04-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001618317	SCV002047851	benign	not provided	2023-11-16	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000192572	SCV004101965	benign	not specified	2023-11-12	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 66% of patients studied by a panel of primary immunodeficiencies. Number of patients: 63. Only high quality variants are reported.
Myriad Genetics, Inc.	RCV004589664	SCV005084890	benign	Familial cancer of breast	2024-05-14	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
Natera, Inc.	RCV000286085	SCV001457145	benign	Ataxia-telangiectasia syndrome	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000192572	SCV001742022	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000192572	SCV001809745	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000192572	SCV001905818	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000192572	SCV001917336	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000192572	SCV001928570	benign	not specified		no assertion criteria provided	clinical testing