ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.497-4del

dbSNP: rs768748099
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162539 SCV000212940 likely benign Hereditary cancer-predisposing syndrome 2018-01-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001596980 SCV000729456 benign not provided 2018-08-09 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001596980 SCV002010809 likely benign not provided 2021-11-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000162539 SCV002527745 benign Hereditary cancer-predisposing syndrome 2019-12-09 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000602919 SCV002760506 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000602919 SCV001741224 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000602919 SCV001906151 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000602919 SCV001917801 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000602919 SCV002035231 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001596980 SCV002035346 likely benign not provided no assertion criteria provided clinical testing

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