ClinVar Miner

Submissions for variant NM_001256849.1(POLD1):c.2007-5C>T (rs199506387)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227029 SCV000287546 likely benign Colorectal cancer 10 2017-12-14 criteria provided, single submitter clinical testing
GeneDx RCV000439488 SCV000520796 likely benign not specified 2017-10-24 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.
Ambry Genetics RCV000572171 SCV000670927 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
PreventionGenetics,PreventionGenetics RCV000679486 SCV000806484 likely benign not provided 2018-01-11 criteria provided, single submitter clinical testing
Molecular Oncology Laboratory,Hospital Clínico San Carlos RCV000227029 SCV000844937 benign Colorectal cancer 10 2018-06-01 no assertion criteria provided clinical testing

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