ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5952T>C (p.Asn1984=) (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 RCV000469890 SCV000562598 likely benign Familial adenomatous polyposis 1 2020-11-26 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 Synonymous alterations with insufficient evidence to classify as benign
Color Health, Inc RCV000566862 SCV000904169 likely benign Hereditary cancer-predisposing syndrome 2018-08-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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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