ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5952T>C (p.Asn1984=)

gnomAD frequency: 0.00001  dbSNP: rs142019870
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703802 SCV000523758 likely benign not provided 2019-12-09 criteria provided, single submitter clinical testing
Invitae RCV003766266 SCV000562598 likely benign Familial adenomatous polyposis 1 2023-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566862 SCV000672555 likely benign Hereditary cancer-predisposing syndrome 2017-01-06 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.
Color Diagnostics, LLC DBA Color Health RCV000566862 SCV000904169 likely benign Hereditary cancer-predisposing syndrome 2018-08-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001155578 SCV001317015 uncertain significance APC-Associated Polyposis Disorders 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000432139 SCV001372266 likely benign not specified 2020-06-27 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000432139 SCV000691759 likely benign not specified no assertion criteria provided clinical testing

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