ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8671+18T>C

gnomAD frequency: 0.00002  dbSNP: rs763189977
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581636 SCV000687848 likely benign Hereditary cancer-predisposing syndrome 2015-10-29 criteria provided, single submitter clinical testing
GeneDx RCV001692212 SCV001946022 benign not provided 2015-04-29 criteria provided, single submitter clinical testing
Invitae RCV002061697 SCV002384655 likely benign Ataxia-telangiectasia syndrome 2024-01-15 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV001692212 SCV001906205 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001692212 SCV001954579 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001692212 SCV002036840 likely benign not provided no assertion criteria provided clinical testing

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