ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5918+72A>G

gnomAD frequency: 0.00314  dbSNP: rs3218694
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521503 SCV001730860 benign Ataxia-telangiectasia syndrome 2025-01-20 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000208926 SCV002537483 likely benign Hereditary cancer-predisposing syndrome 2021-05-24 criteria provided, single submitter curation
Breakthrough Genomics, Breakthrough Genomics RCV001528368 SCV005229295 benign not provided criteria provided, single submitter not provided
University of Washington Department of Laboratory Medicine, University of Washington RCV000208926 SCV000264891 likely benign Hereditary cancer-predisposing syndrome 2015-12-01 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528368 SCV001740017 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001725138 SCV001959912 benign not specified no assertion criteria provided clinical testing

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