ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2638+2T>G

dbSNP: rs587779826
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002226402 SCV002505330 pathogenic Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004047245 SCV004930667 likely pathogenic Familial cancer of breast 2024-01-18 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

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