ClinVar Miner

Submissions for variant NM_001256849.1(POLD1):c.1421T>C (p.Leu474Pro) (rs587777627)

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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 RCV000568467 SCV000676200 pathogenic Hereditary cancer-predisposing syndrome 2017-12-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Well-characterized mutation at same position,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Good segregation with disease (lod 1.5-3 = 5-9 meioses),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rarity in general population databases (dbsnp, esp, 1000 genomes),Other data supporting pathogenic classification
Counsyl RCV000133512 SCV000488503 likely pathogenic Colorectal cancer 10 2016-06-10 criteria provided, single submitter clinical testing
OMIM RCV000133512 SCV000188587 risk factor Colorectal cancer 10 2014-07-01 no assertion criteria provided literature only

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