ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4908T>C (p.Asp1636=)

dbSNP: rs1554086296
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565616 SCV000667594 likely benign Hereditary cancer-predisposing syndrome 2016-10-26 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.
GeneDx RCV001707744 SCV000726413 likely benign not provided 2021-06-05 criteria provided, single submitter clinical testing
Invitae RCV003537140 SCV001081178 likely benign Familial adenomatous polyposis 1 2023-09-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000565616 SCV004361425 likely benign Hereditary cancer-predisposing syndrome 2022-11-06 criteria provided, single submitter clinical testing

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