ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8610_8613dup (p.His2872Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV003486407 SCV004239257 pathogenic Ataxia-telangiectasia syndrome 2024-01-29 criteria provided, single submitter clinical testing

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