ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5298T>C (p.Asp1766=)

gnomAD frequency: 0.00001  dbSNP: rs781533317
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427259 SCV000519146 likely benign not specified 2015-09-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000493751 SCV000581427 likely benign Hereditary cancer-predisposing syndrome 2015-01-05 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.
Invitae RCV003650587 SCV000647572 benign Familial adenomatous polyposis 1 2024-01-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679065 SCV000805430 likely benign not provided 2017-11-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000493751 SCV000911126 likely benign Hereditary cancer-predisposing syndrome 2017-11-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679065 SCV002047004 benign not provided 2021-04-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000427259 SCV002819416 benign not specified 2022-12-10 criteria provided, single submitter clinical testing

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