ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5376T>C (p.Asn1792=)

gnomAD frequency: 0.00001  dbSNP: rs76364845
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719998 SCV000515498 likely benign not provided 2019-12-20 criteria provided, single submitter clinical testing
Invitae RCV002230239 SCV000647581 likely benign Familial adenomatous polyposis 1 2023-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571384 SCV000667263 likely benign Hereditary cancer-predisposing syndrome 2016-01-07 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 RCV000571384 SCV000905989 likely benign Hereditary cancer-predisposing syndrome 2018-06-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265758 SCV002547858 likely benign not specified 2022-05-09 criteria provided, single submitter clinical testing

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