ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4612-4T>G

gnomAD frequency: 0.00001  dbSNP: rs569983068
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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 RCV000222370 SCV000274482 likely benign Hereditary cancer-predisposing syndrome 2019-10-04 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000539535 SCV000622516 likely benign Ataxia-telangiectasia syndrome 2023-10-09 criteria provided, single submitter clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000222370 SCV000803144 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000222370 SCV000903908 likely benign Hereditary cancer-predisposing syndrome 2016-07-11 criteria provided, single submitter clinical testing
GeneDx RCV001596995 SCV001830247 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493514 SCV004243444 uncertain significance not specified 2024-02-06 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004589942 SCV005081930 likely benign Familial cancer of breast 2024-05-20 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752].

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