ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3077+9A>G

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002775868 SCV003033332 uncertain significance Ataxia-telangiectasia syndrome 2023-07-08 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. ClinVar contains an entry for this variant (Variation ID: 1987282). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 20 of the ATM gene. It does not directly change the encoded amino acid sequence of the ATM protein.
Baylor Genetics RCV004571252 SCV005056982 uncertain significance Familial cancer of breast 2024-02-16 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004571252 SCV005083939 likely benign Familial cancer of breast 2024-05-13 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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