ClinVar Miner

Submissions for variant NG_009830.1:g.(41245_49339)_(137044_147250)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HSP Biomedical Diagnostics Department, Hospital San Pedro RCV000677737 SCV000788258 pathogenic Ataxia-telangiectasia syndrome 2018-07-26 no assertion criteria provided clinical testing The variant NG_009830.1:c.(2466+1_2467-1)_(8850+1_8851-1)dup has been observed in a 4-year-old female together with the variant NM_000051.3:c.6899G>C (zygosity: compound heterozygote). The girl presents ataxia-telangiectasia phenotype.

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