ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6480A>C (p.Thr2160=)

dbSNP: rs1554087452
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582001 SCV000687084 likely benign Hereditary cancer-predisposing syndrome 2017-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582001 SCV001187479 likely benign Hereditary cancer-predisposing syndrome 2018-12-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV004562596 SCV004364429 likely benign Familial adenomatous polyposis 1 2023-12-27 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004562596 SCV005083347 benign Familial adenomatous polyposis 1 2024-04-04 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
All of Us Research Program, National Institutes of Health RCV004807008 SCV005427655 likely benign Classic or attenuated familial adenomatous polyposis 2024-08-29 criteria provided, single submitter clinical testing

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