Submissions for variant NM_000051.4(ATM):c.1236-4_1236-3del

dbSNP: rs34325032

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001799108	SCV002042811	benign	Breast and/or ovarian cancer	2021-04-27	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002255683	SCV002530220	benign	Hereditary cancer-predisposing syndrome	2021-05-30	criteria provided, single submitter	curation
Ambry Genetics	RCV002255683	SCV002667078	benign	Hereditary cancer-predisposing syndrome	2020-07-06	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002465891	SCV002760521	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579467	SCV001807364	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001579467	SCV001923530	likely benign	not provided		no assertion criteria provided	clinical testing