ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3675C>T (p.Ala1225=)

dbSNP: rs759214956
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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 RCV001020859 SCV001182394 likely benign Hereditary cancer-predisposing syndrome 2018-01-17 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.
Invitae RCV003769533 SCV002412975 likely benign Familial adenomatous polyposis 1 2023-10-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001020859 SCV004362767 likely benign Hereditary cancer-predisposing syndrome 2023-04-10 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004030803 SCV004930647 benign Familial adenomatous polyposis 1 2024-03-21 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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