ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6276A>G (p.Leu2092=)

gnomAD frequency: 0.00002  dbSNP: rs548566231
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721439 SCV000534084 likely benign not provided 2019-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491901 SCV000579889 likely benign Hereditary cancer-predisposing syndrome 2016-04-07 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.
Color Diagnostics, LLC DBA Color Health RCV000491901 SCV000903900 likely benign Hereditary cancer-predisposing syndrome 2016-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766425 SCV001016345 likely benign Familial adenomatous polyposis 1 2023-11-27 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003766425 SCV004017671 likely benign Familial adenomatous polyposis 1 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001721439 SCV004699114 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing APC: BP4, BP7
All of Us Research Program, National Institutes of Health RCV004000554 SCV004840337 likely benign Classic or attenuated familial adenomatous polyposis 2023-08-15 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003766425 SCV005084119 benign Familial adenomatous polyposis 1 2024-04-04 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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