Submissions for variant NM_000051.4(ATM):c.7521C>T (p.Asp2507=)

gnomAD frequency: 0.00006  dbSNP: rs751234924

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000162738	SCV000213209	likely benign	Hereditary cancer-predisposing syndrome	2014-10-09	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.
Invitae	RCV000198042	SCV000252981	likely benign	Ataxia-telangiectasia syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000162738	SCV000682422	likely benign	Hereditary cancer-predisposing syndrome	2016-02-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001528426	SCV001946019	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 12810666)
Sema4, Sema4	RCV000162738	SCV002538060	likely benign	Hereditary cancer-predisposing syndrome	2021-08-11	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001528426	SCV004133273	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	ATM: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001528426	SCV004564234	likely benign	not provided	2022-12-23	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004589685	SCV005083936	benign	Familial cancer of breast	2024-06-14	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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV004596080	SCV005089819	likely benign	not specified	2024-07-31	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528426	SCV001740164	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001528426	SCV001809603	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV001528426	SCV001906006	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001528426	SCV001959769	likely benign	not provided		no assertion criteria provided	clinical testing