Submissions for variant NM_001184.4(ATR):c.3888T>C (p.Asn1296=)

gnomAD frequency: 0.00015  dbSNP: rs143268462

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001400954	SCV001602765	likely benign	not provided	2024-01-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001400954	SCV002563793	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	ATR: BP4, BP7
Ambry Genetics	RCV002368259	SCV002623903	likely benign	Inborn genetic diseases	2022-02-14	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.
Genome-Nilou Lab	RCV003127874	SCV003801626	likely benign	Seckel syndrome 1	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003127875	SCV003801628	likely benign	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	2023-02-08	criteria provided, single submitter	clinical testing