ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6684G>A (p.Arg2228=)

gnomAD frequency: 0.00001  dbSNP: rs752314977
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166095 SCV000216861 likely benign Hereditary cancer-predisposing syndrome 2014-10-10 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.
Color Diagnostics, LLC DBA Color Health RCV000166095 SCV001347048 likely benign Hereditary cancer-predisposing syndrome 2019-05-31 criteria provided, single submitter clinical testing
Invitae RCV002228758 SCV001673771 likely benign Familial adenomatous polyposis 1 2021-12-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000459466 SCV002046096 likely benign not provided 2021-03-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000166095 SCV002534418 likely benign Hereditary cancer-predisposing syndrome 2021-10-11 criteria provided, single submitter curation

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