ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.496+18T>A

gnomAD frequency: 0.00003  dbSNP: rs762171014
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000583107 SCV000687586 likely benign Hereditary cancer-predisposing syndrome 2015-07-29 criteria provided, single submitter clinical testing
GeneDx RCV000608316 SCV000729454 benign not specified 2015-07-23 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 RCV002060605 SCV002362054 likely benign Ataxia-telangiectasia syndrome 2024-01-27 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000608316 SCV004027135 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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