ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5006-5T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003605465 SCV004466522 likely benign Ataxia-telangiectasia syndrome 2023-05-11 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004593427 SCV005084011 likely benign Familial cancer of breast 2024-05-22 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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