ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2802T>G (p.Thr934=)

gnomAD frequency: 0.00002  dbSNP: rs1007581628
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001016648 SCV001177624 likely benign Hereditary cancer-predisposing syndrome 2018-06-06 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 RCV002235966 SCV001680657 likely benign Familial adenomatous polyposis 1 2023-07-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478580 SCV004220359 benign not provided 2023-06-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001016648 SCV004361144 likely benign Hereditary cancer-predisposing syndrome 2022-03-21 criteria provided, single submitter clinical testing

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