ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6899G>C (p.Trp2300Ser) (rs1555119899)

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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 RCV000677225 SCV000788257 likely pathogenic Ataxia-telangiectasia syndrome 2018-07-26 no assertion criteria provided clinical testing This variant (NM_000051.3:c.6899G>C) is seen in compound heterozygosity with the variant NG_009830.1(NM_000051.3):c.(2466+1_2467-1)_(8850+1_8851-1)dup in the affected child.

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