ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3577-12del

dbSNP: rs730881288
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159615 SCV000209600 benign Hereditary cancer-predisposing syndrome 2014-04-22 criteria provided, single submitter clinical testing The variant is found in BR-OV-HEREDIC,PANC-HEREDIC panel(s).
Color Diagnostics, LLC DBA Color Health RCV000159615 SCV000682145 likely benign Hereditary cancer-predisposing syndrome 2016-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002053912 SCV002405074 benign Ataxia-telangiectasia syndrome 2024-01-18 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004589665 SCV005085793 benign Familial cancer of breast 2024-05-15 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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