ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7266T>A (p.Thr2422=)

dbSNP: rs554878484
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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 RCV000581467 SCV000687118 likely benign Hereditary cancer-predisposing syndrome 2017-04-06 criteria provided, single submitter clinical testing
GeneDx RCV001200170 SCV000721321 likely benign not provided 2019-05-22 criteria provided, single submitter clinical testing
Invitae RCV002233469 SCV001014282 likely benign Familial adenomatous polyposis 1 2023-10-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001200170 SCV001371060 likely benign not provided 2020-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581467 SCV002672061 benign Hereditary cancer-predisposing syndrome 2021-03-18 criteria provided, single submitter clinical testing This alteration is classified as 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.

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