ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1549-20A>G

gnomAD frequency: 0.00001  dbSNP: rs993325922
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004045880 SCV002393615 likely benign Familial adenomatous polyposis 1 2024-09-16 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003320869 SCV004025041 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004045880 SCV004931924 likely benign Familial adenomatous polyposis 1 2024-03-05 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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