Submissions for variant NM_000051.4(ATM):c.2805G>A (p.Thr935=)

dbSNP: rs55934812

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000217141	SCV000276596	likely benign	Hereditary cancer-predisposing syndrome	2015-06-24	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.
GeneDx	RCV000438746	SCV000520487	likely benign	not specified	2015-11-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000475989	SCV000558308	likely benign	Ataxia-telangiectasia syndrome	2024-01-18	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000217141	SCV000905151	likely benign	Hereditary cancer-predisposing syndrome	2015-04-24	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002494597	SCV002803214	likely benign	Familial cancer of breast; Ataxia-telangiectasia syndrome	2021-08-25	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004590987	SCV005084839	benign	Familial cancer of breast	2024-05-10	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.