ClinVar Miner

Submissions for variant NM_000038.6(APC):c.423-17T>A

gnomAD frequency: 0.00114  dbSNP: rs534684461
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582266 SCV000686967 likely benign Hereditary cancer-predisposing syndrome 2017-11-12 criteria provided, single submitter clinical testing
Mendelics RCV000987551 SCV001136872 likely benign Familial adenomatous polyposis 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001640304 SCV001859705 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000582266 SCV002531949 likely benign Hereditary cancer-predisposing syndrome 2021-07-04 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000202107 SCV002550558 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000987551 SCV004015669 benign Familial adenomatous polyposis 1 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001640304 SCV004159215 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing APC: BS1
Breakthrough Genomics, Breakthrough Genomics RCV001640304 SCV005226758 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000202107 SCV000256990 likely benign not specified no assertion criteria provided research
Clinical Genetics, Academic Medical Center RCV000202107 SCV001918729 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001640304 SCV001962912 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000202107 SCV002035954 benign not specified no assertion criteria provided clinical testing

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