ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.971-19G>A

gnomAD frequency: 0.00089  dbSNP: rs56022846
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236647 SCV000293584 likely benign not specified 2017-10-13 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.
Counsyl RCV000412034 SCV000489125 likely benign Colorectal cancer, susceptibility to, 10 2016-08-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679535 SCV000806572 likely benign not provided 2016-11-09 criteria provided, single submitter clinical testing
Invitae RCV000412034 SCV002402541 benign Colorectal cancer, susceptibility to, 10 2024-02-01 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000412034 SCV004018512 likely benign Colorectal cancer, susceptibility to, 10 2023-04-19 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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