ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3354A>G (p.Thr1118=)

gnomAD frequency: 0.00003  dbSNP: rs377316982
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164997 SCV000215691 likely benign Hereditary cancer-predisposing syndrome 2014-08-07 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.
Invitae RCV000197319 SCV000254083 likely benign Ataxia-telangiectasia syndrome 2024-01-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000164997 SCV000682122 likely benign Hereditary cancer-predisposing syndrome 2016-12-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001171665 SCV001334470 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing ATM: BP4, BP7
GeneDx RCV001171665 SCV001903072 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000164997 SCV002535924 likely benign Hereditary cancer-predisposing syndrome 2021-02-05 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235083 SCV003934550 likely benign not specified 2023-05-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001171665 SCV004220973 likely benign not provided 2022-06-03 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004589761 SCV005084613 benign Familial cancer of breast 2024-05-14 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.

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