ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5178A>G (p.Glu1726=)

gnomAD frequency: 0.00016  dbSNP: rs368494571
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164325 SCV000214956 likely benign Hereditary cancer-predisposing syndrome 2014-09-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV003765020 SCV000260767 likely benign Familial adenomatous polyposis 1 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000679063 SCV000526066 likely benign not provided 2020-10-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000164325 SCV000681711 likely benign Hereditary cancer-predisposing syndrome 2016-03-18 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000679063 SCV000805424 likely benign not provided 2017-07-28 criteria provided, single submitter clinical testing

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