ClinVar Miner

Submissions for variant NC_000011.10:g.108151767_108183227del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea RCV000856665 SCV000999058 pathogenic Ataxia-telangiectasia syndrome 2019-11-20 no assertion criteria provided clinical testing The patient has another variant on the other allele (NM_000051.3: c.742C>T p.(Arg248Ter)).

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