Submissions for variant NM_000051.4(ATM):c.8763G>A (p.Thr2921=)

dbSNP: rs781528244

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163433	SCV000213979	likely benign	Hereditary cancer-predisposing syndrome	2015-09-02	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	RCV000163433	SCV000682512	likely benign	Hereditary cancer-predisposing syndrome	2017-05-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000700345	SCV000829097	likely benign	Ataxia-telangiectasia syndrome	2024-12-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001651032	SCV001868735	likely benign	not provided	2018-10-19	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001651032	SCV002010775	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004589711	SCV005083452	benign	Familial cancer of breast	2024-06-20	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.