ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.185+10T>C

gnomAD frequency: 0.00001  dbSNP: rs1555054317
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608421 SCV000725115 likely benign not specified 2017-11-27 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000873892 SCV001015981 likely benign Ataxia-telangiectasia syndrome 2023-10-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179640 SCV001344350 likely benign Hereditary cancer-predisposing syndrome 2019-07-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000608421 SCV002041651 uncertain significance not specified 2021-11-30 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004592944 SCV005082841 likely benign Familial cancer of breast 2024-04-17 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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