Submissions for variant NM_000051.4(ATM):c.8094A>G (p.Leu2698=)

dbSNP: rs786203569

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000166947	SCV000217767	likely benign	Hereditary cancer-predisposing syndrome	2014-11-24	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	RCV000166947	SCV000904743	likely benign	Hereditary cancer-predisposing syndrome	2018-09-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000952587	SCV001099102	likely benign	Ataxia-telangiectasia syndrome	2024-01-24	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001174986	SCV001338476	likely benign	not specified	2020-04-17	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000166947	SCV002537856	likely benign	Hereditary cancer-predisposing syndrome	2021-10-02	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV004589812	SCV005083979	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.