ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2455T>C (p.Cys819Arg) (rs775644968)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566647 SCV000672641 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000211457 SCV000268515 likely pathogenic Ataxia-telangiectasia syndrome 2016-02-19 criteria provided, single submitter clinical testing This inherited recessive likely pathogenic mutation in the ATM gene was observed in combination with a second recessive pathogenic mutation in the ATM gene, NM_000051.2:c.8264_8268del, in a patient with ataxia-telangectasia.

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