ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2839-7A>G

dbSNP: rs1445472389
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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 RCV000582384 SCV000687422 likely benign Hereditary cancer-predisposing syndrome 2017-06-03 criteria provided, single submitter clinical testing
GeneDx RCV000613445 SCV000729561 likely benign not specified 2017-09-26 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 RCV001499375 SCV001704139 likely benign Ataxia-telangiectasia syndrome 2023-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582384 SCV004849119 uncertain significance Hereditary cancer-predisposing syndrome 2015-04-02 criteria provided, single submitter clinical testing The c.2839-7A>G intronic alteration consists of a A to G substitution 7 nucleotides before coding exon 18 in the ATM gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Myriad Genetics, Inc. RCV004592825 SCV005082764 likely benign Familial cancer of breast 2024-05-10 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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