ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6573-42del

dbSNP: rs11366542
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001658605 SCV001872057 benign not provided 2019-08-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV001694147 SCV004101916 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 72% of patients studied by a panel of primary immunodeficiencies. Number of patients: 69. Only high quality variants are reported.
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV001694147 SCV001906309 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001658605 SCV001917999 likely benign not provided no assertion criteria provided clinical testing

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