ClinVar Miner

Submissions for variant NM_001256849.1(POLD1):c.2275G>A (p.Val759Ile) (rs145473716)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000210771 SCV000670921 likely benign Hereditary cancer-predisposing syndrome 2016-11-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
Counsyl RCV000206687 SCV000488800 uncertain significance Colorectal cancer 10 2016-07-25 criteria provided, single submitter clinical testing
GeneDx RCV000217194 SCV000279378 likely benign not specified 2018-01-12 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.
Invitae RCV000206687 SCV000262152 benign Colorectal cancer 10 2018-01-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217194 SCV000540078 likely benign not specified 2016-12-02 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant is present in ExAC with a MaxMAF of 0.242% (35 South Asian and 150 European alleles) and 2% in gnomAD (207 Ashkenazi alleles - too high for disease prevalence). It is classified in ClinVar with 1 star as Likely benign by 2 submitters (Invitae, Vantari) and as VUS by GeneDx.
Mendelics RCV000709588 SCV000839444 uncertain significance Familial colorectal cancer 2018-07-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679493 SCV000806496 likely benign not provided 2017-01-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000217194 SCV000601913 likely benign not specified 2017-04-18 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000210771 SCV000788138 likely benign Hereditary cancer-predisposing syndrome 2017-09-29 no assertion criteria provided clinical testing
Vantari Genetics RCV000210771 SCV000267079 likely benign Hereditary cancer-predisposing syndrome 2015-10-26 criteria provided, single submitter clinical testing

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