ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.606C>T (p.His202=)

gnomAD frequency: 0.00001  dbSNP: rs200405635
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080343 SCV000646685 likely benign Colorectal cancer, susceptibility to, 10 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566471 SCV000671115 likely benign Hereditary cancer-predisposing syndrome 2016-11-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000558270 SCV000732729 likely benign not provided 2019-05-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27149842)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000558270 SCV001134666 benign not provided 2019-02-21 criteria provided, single submitter clinical testing

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