ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4777-13T>A

gnomAD frequency: 0.00004  dbSNP: rs371535082
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672245 SCV000797336 uncertain significance Ataxia-telangiectasia syndrome 2018-01-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001187884 SCV001354796 likely benign Hereditary cancer-predisposing syndrome 2018-11-06 criteria provided, single submitter clinical testing
Invitae RCV000672245 SCV002335726 likely benign Ataxia-telangiectasia syndrome 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV003153797 SCV003842535 likely benign not provided 2023-03-21 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Myriad Genetics, Inc. RCV004588100 SCV005083009 likely benign Familial cancer of breast 2024-05-21 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752].

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