ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.1869G>T (p.Arg623=)

gnomAD frequency: 0.00001  dbSNP: rs748380365
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000679485 SCV000532197 likely benign not provided 2019-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085593 SCV000558786 likely benign Colorectal cancer, susceptibility to, 10 2025-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679485 SCV000806481 likely benign not provided 2017-08-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000679000 SCV002722287 likely benign Hereditary cancer-predisposing syndrome 2017-11-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
True Health Diagnostics RCV000679000 SCV000805287 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-15 no assertion criteria provided clinical testing

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