Submissions for variant NM_000051.4(ATM):c.2638+9A>G

gnomAD frequency: 0.00003  dbSNP: rs761592414

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000471751	SCV000558310	likely benign	Ataxia-telangiectasia syndrome	2024-01-16	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001182719	SCV001348270	likely benign	Hereditary cancer-predisposing syndrome	2017-03-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001653845	SCV001870119	benign	not provided	2015-06-02	criteria provided, single submitter	clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV002225627	SCV002505331	likely benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004591338	SCV005084987	likely benign	Familial cancer of breast	2024-05-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
PreventionGenetics, part of Exact Sciences	RCV004551549	SCV004709915	likely benign	ATM-related disorder	2022-08-10	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).