ClinVar Miner

Submissions for variant NM_000038.6(APC):c.225T>C (p.Leu75=)

dbSNP: rs1756428442
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001176174 SCV001340053 likely benign Hereditary cancer-predisposing syndrome 2019-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004032992 SCV003517520 likely benign Familial adenomatous polyposis 1 2022-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV001176174 SCV004005117 likely benign Hereditary cancer-predisposing syndrome 2023-03-18 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.
Myriad Genetics, Inc. RCV004032992 SCV004932379 benign Familial adenomatous polyposis 1 2024-02-22 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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