ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7020C>T (p.Asn2340=)

gnomAD frequency: 0.00002  dbSNP: rs773108684
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213378 SCV000277073 likely benign Hereditary cancer-predisposing syndrome 2015-07-17 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.
GeneDx RCV001705223 SCV000530299 likely benign not provided 2019-04-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15122587)
Labcorp Genetics (formerly Invitae), Labcorp RCV004567620 SCV000647687 benign Familial adenomatous polyposis 1 2023-12-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000213378 SCV000687108 likely benign Hereditary cancer-predisposing syndrome 2017-09-22 criteria provided, single submitter clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000213378 SCV004014997 likely benign Hereditary cancer-predisposing syndrome 2023-05-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001705223 SCV004220510 benign not provided 2023-01-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998004 SCV004843489 likely benign Classic or attenuated familial adenomatous polyposis 2023-07-22 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004567620 SCV005083911 benign Familial adenomatous polyposis 1 2024-04-08 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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