ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.497-4T>A (rs876659621)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221208 SCV000276285 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbSNP, ESP, 1000 Genomes),Insufficient or Conflicting Evidence,in silico models in agreement (benign)
Color RCV000221208 SCV000904854 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-24 criteria provided, single submitter clinical testing
Invitae RCV000543862 SCV000622551 likely benign Ataxia-telangiectasia syndrome 2017-03-20 criteria provided, single submitter clinical testing

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