ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4910-16A>T

gnomAD frequency: 0.00001  dbSNP: rs866500582
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428745 SCV000522962 likely benign not specified 2017-05-22 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.
Color Diagnostics, LLC DBA Color Health RCV000580519 SCV000682229 likely benign Hereditary cancer-predisposing syndrome 2016-02-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065032 SCV002369195 likely benign Ataxia-telangiectasia syndrome 2024-11-24 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492041 SCV004240758 uncertain significance Breast and/or ovarian cancer 2022-08-24 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004591193 SCV005082925 likely benign Familial cancer of breast 2024-05-21 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne RCV005090755 SCV005848175 uncertain significance Hereditary breast ovarian cancer syndrome 2025-01-14 criteria provided, single submitter curation According to the ClinGen ACMG ATM v1.3.0 criteria we chose this criterion: BP4 (supporting benign): SpliceAI shows impact on splicing.
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV001692095 SCV001905858 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001692095 SCV001954801 likely benign not provided no assertion criteria provided clinical testing

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