ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4612-4T>G (rs569983068)

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Total submissions: 4
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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 Intronic alteration with no splicing impact by rt-pcr analysis or other splicing assay;RNA Studies
Invitae RCV000539535 SCV000622516 uncertain significance Ataxia-telangiectasia syndrome 2019-12-27 criteria provided, single submitter clinical testing This sequence change falls in intron 30 of the ATM gene. It does not directly change the encoded amino acid sequence of the ATM protein. This variant is present in population databases (rs569983068, ExAC 0.005%). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 230811). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
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 RCV000222370 SCV000903908 likely benign Hereditary cancer-predisposing syndrome 2016-07-11 criteria provided, single submitter clinical testing

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