ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7789-15G>C

gnomAD frequency: 0.00010  dbSNP: rs781449587
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582418 SCV000687794 likely benign Hereditary cancer-predisposing syndrome 2016-07-11 criteria provided, single submitter clinical testing
GeneDx RCV001672883 SCV001883965 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061689 SCV002368692 likely benign Ataxia-telangiectasia syndrome 2025-01-08 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492111 SCV004239494 likely benign Breast and/or ovarian cancer 2022-11-09 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004592882 SCV005081997 likely benign Familial cancer of breast 2024-06-17 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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