Submissions for variant NM_000051.4(ATM):c.2610C>T (p.Asn870=)

gnomAD frequency: 0.00004  dbSNP: rs587780618

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000122835	SCV000166093	benign	Ataxia-telangiectasia syndrome	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000166331	SCV000217117	likely benign	Hereditary cancer-predisposing syndrome	2024-02-02	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.
Color Diagnostics, LLC DBA Color Health	RCV000166331	SCV000682064	likely benign	Hereditary cancer-predisposing syndrome	2015-10-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000586240	SCV000694232	likely benign	not specified	2019-08-20	criteria provided, single submitter	clinical testing
GeneDx	RCV001650986	SCV001869998	benign	not provided	2015-06-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 12810666, 17333338)
Sema4, Sema4	RCV000166331	SCV002532345	likely benign	Hereditary cancer-predisposing syndrome	2021-04-22	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV004589598	SCV005084545	benign	Familial cancer of breast	2024-05-09	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.
CeGaT Center for Human Genetics Tuebingen	RCV001650986	SCV005329764	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ATM: BP4, BP7
True Health Diagnostics	RCV000166331	SCV000787855	likely benign	Hereditary cancer-predisposing syndrome	2017-09-12	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001650986	SCV001960152	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001650986	SCV001965093	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001650986	SCV002034267	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000122835	SCV002076342	likely benign	Ataxia-telangiectasia syndrome	2020-05-26	no assertion criteria provided	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000586240	SCV003840059	likely benign	not specified	2022-06-06	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004551197	SCV004733621	likely benign	ATM-related disorder	2019-05-08	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).