Submissions for variant NM_000051.4(ATM):c.5320-10T>C

gnomAD frequency: 0.00001  dbSNP: rs864622731

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000206328	SCV000262188	likely benign	Ataxia-telangiectasia syndrome	2023-07-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000439365	SCV000526976	likely benign	not specified	2016-04-18	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.
Counsyl	RCV000206328	SCV000793241	uncertain significance	Ataxia-telangiectasia syndrome	2017-08-08	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000777916	SCV000913956	likely benign	Hereditary cancer-predisposing syndrome	2018-05-11	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004589901	SCV005085816	likely benign	Familial cancer of breast	2024-05-23	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	RCV004547501	SCV004784356	likely benign	ATM-related disorder	2024-01-23	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).