ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.-14T>C

gnomAD frequency: 0.00001  dbSNP: rs766166610
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000679096 SCV000805486 likely benign not provided 2017-11-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777647 SCV000913523 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-11 criteria provided, single submitter clinical testing This variant causes a T>C nucleotide substitution at the -14 position of the 5' untranslated region of the ATM gene. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 4/251356 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
GeneDx RCV000679096 SCV001834098 benign not provided 2015-08-04 criteria provided, single submitter clinical testing

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