ClinVar Miner

Submissions for variant NM_000038.6(APC):c.934-14C>T

gnomAD frequency: 0.00007  dbSNP: rs778707022
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410782 SCV000489559 likely benign Familial adenomatous polyposis 1 2016-10-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000583876 SCV000687183 likely benign Hereditary cancer-predisposing syndrome 2016-05-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001151509 SCV001312640 uncertain significance APC-Associated Polyposis Disorders 2018-01-12 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.
GeneDx RCV001618683 SCV001846688 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV000410782 SCV002401244 benign Familial adenomatous polyposis 1 2024-01-19 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000410782 SCV004020267 likely benign Familial adenomatous polyposis 1 2023-02-14 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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