ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3077A>C (p.Asn1026Thr) (rs1114167603)

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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 RCV000491915 SCV000579912 likely pathogenic Hereditary cancer-predisposing syndrome 2016-06-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,Moderate segregation with disease (at least 3 informative meioses) for rare diseases.,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Well-characterized mutation at same position,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000502196 SCV000591129 uncertain significance not specified 2016-09-26 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000502196 SCV000691729 uncertain significance not specified no assertion criteria provided clinical testing

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