ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6385T>G (p.Tyr2129Asp) (rs876658542)

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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 RCV000219813 SCV000273926 uncertain significance Hereditary cancer-predisposing syndrome 2015-02-02 criteria provided, single submitter clinical testing
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000449493 SCV000537715 likely pathogenic Ataxia-telangiectasia syndrome 2016-07-05 criteria provided, single submitter clinical testing This heterozygous variant in the ATM gene (autosomal recessive transmission) was identified in a male patient with ataxia telangiectasia, who also harbours another variant in the ATM gene (compound heterozygosity)

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