Submissions for variant NM_000051.4(ATM):c.8211A>T (p.Thr2737=)

dbSNP: rs876660946

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000219301	SCV000278769	likely benign	Hereditary cancer-predisposing syndrome	2015-10-12	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	RCV000979478	SCV001127422	likely benign	Ataxia-telangiectasia syndrome	2023-11-19	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000219301	SCV001353877	likely benign	Hereditary cancer-predisposing syndrome	2019-10-31	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000219301	SCV002527196	uncertain significance	Hereditary cancer-predisposing syndrome	2021-09-15	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003320462	SCV004024726	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003320462	SCV005040446	likely benign	not specified	2024-03-04	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004591040	SCV005082136	benign	Familial cancer of breast	2024-06-18	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.