ClinVar Miner

Submissions for variant NM_000038.6(APC):c.423-4dup

dbSNP: rs730881230
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987550 SCV001136871 benign Familial adenomatous polyposis 1 2019-05-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256640 SCV002531937 benign Hereditary cancer-predisposing syndrome 2020-03-23 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001579624 SCV002550559 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489457 SCV002797775 likely benign Desmoid disease, hereditary; Familial adenomatous polyposis 1; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach 2021-08-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579624 SCV001807925 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001579624 SCV001924530 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579624 SCV001969617 benign not specified no assertion criteria provided clinical testing

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