Submissions for variant NM_000051.4(ATM):c.6681C>T (p.Arg2227=)

gnomAD frequency: 0.00001  dbSNP: rs775850434

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000221538	SCV000275395	likely benign	Hereditary cancer-predisposing syndrome	2015-05-01	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	RCV000988717	SCV000558309	likely benign	Ataxia-telangiectasia syndrome	2024-01-28	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000221538	SCV000682358	likely benign	Hereditary cancer-predisposing syndrome	2016-05-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000988717	SCV001138551	benign	Ataxia-telangiectasia syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000462110	SCV001143119	likely benign	not provided	2019-05-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000462110	SCV001855328	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000221538	SCV002538393	likely benign	Hereditary cancer-predisposing syndrome	2022-02-27	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000462110	SCV004133267	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	ATM: BP4, BP7
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003493519	SCV004242539	likely benign	not specified	2024-02-06	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004589971	SCV005082936	benign	Familial cancer of breast	2024-06-10	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.