Submissions for variant NM_000051.4(ATM):c.2921+19dup

gnomAD frequency: 0.00245  dbSNP: rs56112367

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000159611	SCV000209595	benign	Hereditary cancer-predisposing syndrome	2014-01-07	criteria provided, single submitter	clinical testing	The variant is found in BR-OV-HEREDIC panel(s).
Color Diagnostics, LLC DBA Color Health	RCV000159611	SCV000682087	benign	Hereditary cancer-predisposing syndrome	2015-04-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679108	SCV000805529	benign	not specified	2016-12-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000988668	SCV001138478	benign	Ataxia-telangiectasia syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000988668	SCV002406710	benign	Ataxia-telangiectasia syndrome	2024-02-01	criteria provided, single submitter	clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV002225459	SCV002505339	benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000159611	SCV002746020	likely benign	Hereditary cancer-predisposing syndrome	2015-10-16	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149968	SCV003837684	likely benign	Breast and/or ovarian cancer	2023-02-07	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000679108	SCV004027190	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001729418	SCV004563842	likely benign	not provided	2023-08-17	criteria provided, single submitter	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV001729418	SCV001977643	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000679108	SCV001977731	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001729418	SCV002035741	likely benign	not provided		no assertion criteria provided	clinical testing