ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3994-12G>T

dbSNP: rs1057520398
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436977 SCV000515320 likely benign not specified 2017-01-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000580794 SCV000682172 likely benign Hereditary cancer-predisposing syndrome 2015-07-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000436977 SCV002068609 uncertain significance not specified 2019-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061572 SCV002387954 likely benign Ataxia-telangiectasia syndrome 2024-01-16 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004591154 SCV005083949 likely benign Familial cancer of breast 2024-05-16 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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