ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4170C>T (p.Val1390=)

dbSNP: rs876659338
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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 RCV000219732 SCV000275695 likely benign Hereditary cancer-predisposing syndrome 2015-05-13 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 RCV003765418 SCV000562601 likely benign Familial adenomatous polyposis 1 2024-09-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003997924 SCV004837449 likely benign Classic or attenuated familial adenomatous polyposis 2023-10-06 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003765418 SCV004932758 benign Familial adenomatous polyposis 1 2024-03-26 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.

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