ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1494G>A (p.Glu498=)

gnomAD frequency: 0.00001  dbSNP: rs763108858
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573411 SCV000665440 likely benign Hereditary cancer-predisposing syndrome 2015-08-19 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.
Color Diagnostics, LLC DBA Color Health RCV000573411 SCV000687308 likely benign Hereditary cancer-predisposing syndrome 2017-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000628254 SCV000749149 likely benign Ataxia-telangiectasia syndrome 2023-12-01 criteria provided, single submitter clinical testing
GeneDx RCV001595022 SCV001829468 benign not provided 2015-04-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001595022 SCV004184187 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing ATM: BP4, BP7
Myriad Genetics, Inc. RCV004592666 SCV005084350 benign Familial cancer of breast 2024-04-29 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
PreventionGenetics, part of Exact Sciences RCV004553265 SCV004779323 likely benign ATM-related disorder 2020-04-13 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).

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