ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5424C>T (p.Asn1808=) (rs747721259)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216012 SCV000275774 likely benign Hereditary cancer-predisposing syndrome 2015-05-18 criteria provided, single submitter clinical testing
Invitae RCV000557625 SCV000647584 likely benign Familial adenomatous polyposis 1 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000216012 SCV000681739 likely benign Hereditary cancer-predisposing syndrome 2016-11-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001152937 SCV001314179 uncertain significance APC-Associated Polyposis Disorders 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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