ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2463C>T (p.His821=)

gnomAD frequency: 0.00001  dbSNP: rs150607556
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443434 SCV000533729 likely benign not provided 2019-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565820 SCV000671178 likely benign Hereditary cancer-predisposing syndrome 2016-11-23 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.
Invitae RCV000875969 SCV001018468 likely benign Colorectal cancer, susceptibility to, 10 2023-11-07 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268057 SCV002551962 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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