ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6452+5T>A (rs533830556)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219944 SCV000276488 likely benign Hereditary cancer-predisposing syndrome 2018-01-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (benign),Co-occurence with mutation in same gene (phase unknown)
Counsyl RCV000205279 SCV000789826 uncertain significance Ataxia-telangiectasia syndrome 2017-02-22 criteria provided, single submitter clinical testing
GeneDx RCV000429209 SCV000512175 likely benign not specified 2016-03-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000205279 SCV000260052 uncertain significance Ataxia-telangiectasia syndrome 2015-08-21 criteria provided, single submitter clinical testing

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