ClinVar Miner

Variants in gene EPCAM with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_002354.3(EPCAM):c.577A>G (p.Ile193Val) rs200676965 0.00029
NM_002354.3(EPCAM):c.493G>A (p.Ala165Thr) rs146685071 0.00002
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420

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