ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Richard Lifton Laboratory, Yale University School of Medicine and "likely benign" from any submitter

Minimum review status of the submission from Richard Lifton Laboratory, Yale University School of Medicine: Collection method of the submission from Richard Lifton Laboratory, Yale University School of Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_005235.3(ERBB4):c.2706C>T (p.Asp902=) rs146441207 0.00014
NM_025114.4(CEP290):c.1104C>T (p.Thr368=) rs483352755 0.00004
NM_152281.3(GORAB):c.954G>C (p.Val318=) rs483352768 0.00001

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