ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1548+17T>C

gnomAD frequency: 0.00013  dbSNP: rs367690523
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123660 SCV000166999 benign not specified 2014-03-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000411141 SCV000489287 likely benign Familial adenomatous polyposis 1 2016-09-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000579698 SCV000681469 likely benign Hereditary cancer-predisposing syndrome 2016-10-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811989 SCV002048878 likely benign not provided 2021-08-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000411141 SCV002477945 benign Familial adenomatous polyposis 1 2025-02-02 criteria provided, single submitter clinical testing

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