ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2125-4dup

dbSNP: rs2135391852
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002142257 SCV002411687 likely benign Ataxia-telangiectasia syndrome 2023-10-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003585212 SCV004357191 likely benign Hereditary cancer-predisposing syndrome 2023-12-11 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004591782 SCV005084389 likely benign Familial cancer of breast 2024-05-07 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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