ClinVar Miner

Submissions for variant NM_002354.3(EPCAM):c.904-12T>C

gnomAD frequency: 0.03374  dbSNP: rs62139669
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244983 SCV000308857 benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000244983 SCV000539106 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
GeneDx RCV001723850 SCV001950650 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000244983 SCV002552168 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316394 SCV004017451 benign Lynch syndrome 8 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001723850 SCV005241312 benign not provided criteria provided, single submitter not provided
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000244983 SCV001905701 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000244983 SCV001923051 benign not specified no assertion criteria provided clinical testing

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