ClinVar Miner

Submissions for variant NM_000077.4(CDKN2A):c.179C>A (p.Ala60Glu) (rs36204594)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165798 SCV000216545 likely pathogenic Hereditary cancer-predisposing syndrome 2014-08-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Well-characterized mutation at same position,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rarity in general population databases (dbsnp, esp, 1000 genomes)

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