Submissions for variant NM_000051.4(ATM):c.1773T>C (p.Asn591=)

gnomAD frequency: 0.00013  dbSNP: rs61734356

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000211968	SCV000167066	benign	not specified	2014-04-29	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV000123723	SCV000213137	likely benign	Hereditary cancer-predisposing syndrome	2014-09-12	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	RCV001085839	SCV000252943	likely benign	Ataxia-telangiectasia syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000123723	SCV000537441	likely benign	Hereditary cancer-predisposing syndrome	2015-08-04	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000211968	SCV000694198	likely benign	not specified	2019-08-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000196069	SCV001148404	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	ATM: BP7
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000196069	SCV001469346	likely benign	not provided	2021-09-03	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000196069	SCV001474785	likely benign	not provided	2019-10-15	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798412	SCV002043429	likely benign	Breast and/or ovarian cancer	2022-10-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000196069	SCV002048163	likely benign	not provided	2023-08-24	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000123723	SCV002533353	likely benign	Hereditary cancer-predisposing syndrome	2021-03-16	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000211968	SCV004027159	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000196069	SCV004226228	uncertain significance	not provided	2022-07-15	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004589614	SCV005083851	benign	Familial cancer of breast	2024-05-01	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.
Breakthrough Genomics, Breakthrough Genomics	RCV000196069	SCV005215747	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001085839	SCV001461083	likely benign	Ataxia-telangiectasia syndrome	2020-04-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000196069	SCV001808917	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000196069	SCV001906019	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000196069	SCV002037359	likely benign	not provided		no assertion criteria provided	clinical testing