Submissions for variant NM_000051.4(ATM):c.3747-8A>G

gnomAD frequency: 0.00001  dbSNP: rs569612113

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000581721	SCV000687499	likely benign	Hereditary cancer-predisposing syndrome	2017-10-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000603117	SCV000714109	likely benign	not specified	2017-09-12	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000921007	SCV001066398	likely benign	Ataxia-telangiectasia syndrome	2025-01-21	criteria provided, single submitter	clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV002225676	SCV002504703	likely benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004592836	SCV005085220	likely benign	Familial cancer of breast	2024-05-15	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.