ClinVar Miner

Submissions for variant NM_002354.3(EPCAM):c.831A>G (p.Ile277Met)

gnomAD frequency: 0.00135  dbSNP: rs115283528
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115773 SCV000149682 likely benign not specified 2013-12-12 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000679448 SCV000166504 benign not provided 2023-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000679448 SCV001152269 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing EPCAM: BP4
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000679448 SCV001251958 benign not provided 2020-05-03 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000679448 SCV002010476 likely benign not provided 2021-11-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000115773 SCV002070911 likely benign not specified 2021-07-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000679448 SCV005263950 likely benign not provided criteria provided, single submitter not provided
True Health Diagnostics RCV000678996 SCV000805262 likely benign Hereditary cancer-predisposing syndrome 2018-04-30 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003891613 SCV000806398 benign EPCAM-related disorder 2020-01-10 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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