ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7390T>C (p.Cys2464Arg) (rs55801750)

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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 RCV000115249 SCV000186389 benign Hereditary cancer-predisposing syndrome 2015-11-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: No disease association in appropriately sized case-control study(ies),Intact protein function observed in appropriate functional assay(s),In silico models in agreement (benign)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000589438 SCV000780404 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
Color RCV000115249 SCV000910578 benign Hereditary cancer-predisposing syndrome 2015-11-17 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000119204 SCV000745131 uncertain significance Ataxia-telangiectasia syndrome 2016-02-25 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202803 SCV000257606 uncertain significance not specified 2015-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000202803 SCV000149158 likely benign not specified 2017-10-26 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000119204 SCV000743734 uncertain significance Ataxia-telangiectasia syndrome 2016-10-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589438 SCV000694351 likely benign not provided 2016-09-26 criteria provided, single submitter clinical testing
Invitae RCV000119204 SCV000153946 likely benign Ataxia-telangiectasia syndrome 2018-01-03 criteria provided, single submitter clinical testing

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