ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2251-19T>C

gnomAD frequency: 0.00024  dbSNP: rs370713089
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000237010 SCV000293129 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000776103 SCV000910930 likely benign Hereditary cancer-predisposing syndrome 2015-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057251 SCV002428364 likely benign Ataxia-telangiectasia syndrome 2024-01-24 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004591092 SCV005083877 benign Familial cancer of breast 2024-05-08 criteria provided, single submitter clinical testing This variant is considered 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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