ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6885A>G (p.Ser2295=)

gnomAD frequency: 0.00002  dbSNP: rs763506865
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004563257 SCV000282806 likely benign Familial adenomatous polyposis 1 2024-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV001025758 SCV001188009 likely benign Hereditary cancer-predisposing syndrome 2019-03-09 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800583 SCV002046792 likely benign not provided 2021-03-28 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004563257 SCV005084838 benign Familial adenomatous polyposis 1 2024-04-05 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.
Color Diagnostics, LLC DBA Color Health RCV001025758 SCV006062758 likely benign Hereditary cancer-predisposing syndrome 2022-11-06 criteria provided, single submitter clinical testing

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