ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8419-8A>G

dbSNP: rs567215034
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000583342 SCV000687832 likely benign Hereditary cancer-predisposing syndrome 2016-11-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000628209 SCV000749103 likely benign Ataxia-telangiectasia syndrome 2024-10-03 criteria provided, single submitter clinical testing
GeneDx RCV001549526 SCV001769694 likely benign not provided 2018-06-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821699 SCV002068436 uncertain significance not specified 2018-02-23 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004592887 SCV005083016 likely benign Familial cancer of breast 2024-06-19 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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