ClinVar Miner

Submissions for variant NM_002354.3(EPCAM):c.515C>T (p.Thr172Met)

gnomAD frequency: 0.00220  dbSNP: rs74531854
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001723684 SCV000153947 benign not provided 2024-02-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000249645 SCV000308855 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001723684 SCV001950630 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000664269 SCV002535905 benign Hereditary cancer-predisposing syndrome 2021-05-18 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315709 SCV004017459 benign Lynch syndrome 8 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001723684 SCV005241306 benign not provided criteria provided, single submitter not provided
True Health Diagnostics RCV000664269 SCV000788011 likely benign Hereditary cancer-predisposing syndrome 2017-09-11 no assertion criteria provided clinical testing

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