ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8787-6C>T

dbSNP: rs1591313765
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000897587 SCV001041740 likely benign Ataxia-telangiectasia syndrome 2024-11-04 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225765 SCV002504787 likely benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255572 SCV002530481 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-02 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV004588321 SCV005084157 likely benign Familial cancer of breast 2024-06-21 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
Natera, Inc. RCV000897587 SCV001452138 uncertain significance Ataxia-telangiectasia syndrome 2020-03-17 no assertion criteria provided clinical testing

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