ClinVar Miner

Submissions for variant NM_001256849.1(POLD1):c.463+8_463+9delinsTT (rs796285537)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000590576 SCV000262173 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Counsyl RCV000204810 SCV000488923 likely benign Colorectal cancer 10 2016-07-18 criteria provided, single submitter clinical testing
GeneDx RCV000481167 SCV000568181 likely benign not specified 2016-09-12 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.
Integrated Genetics/Laboratory Corporation of America RCV000590576 SCV000698010 likely benign not provided 2016-08-26 criteria provided, single submitter clinical testing Variant summary: The POLD1 c.463+8_463+9delinsTT variant involves the alteration of non-conserved nucleotides, resulting in a intronic change. This delins variant is not found in ExAC; however, the individual variants that form the variant of interest, viz. 19:50905189 G / T and 19:50905190 C / T are found at allele frequencies of 0.1145 (13864/ 121128) and 0.007434 (901/121202), respectively. In African sub-population, they have allele frequencies of 0.2939 and 0.08015, respectively. Therefore, it is highly likely they are in a considerable linkage disequilibrium such that the variant of interest also has a frequency that exceeds the estimated maximal expected allele frequency (0.00142) based on the disease prevalence of CRC. One clinical lab in ClinVar has classified it bas benign. The variant of interest has not been reported in affected individuals via publications, to our knowledge. Taken together, this variant is classified as likely benign.
True Health Diagnostics RCV000664286 SCV000788149 likely benign Hereditary cancer-predisposing syndrome 2017-10-25 no assertion criteria provided clinical testing

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