ClinVar Miner

Submissions for variant NM_002354.3(EPCAM):c.134A>T (p.Gln45Leu)

gnomAD frequency: 0.00003  dbSNP: rs372142268
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneKor MSA RCV000708699 SCV000822007 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238198 SCV002010480 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing

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