ClinVar Miner

Variants with conflicting interpretations "likely benign" from Knight Diagnostic Laboratories, Oregon Health and Sciences University and "uncertain significance" from any submitter

Minimum review status of the submission from Knight Diagnostic Laboratories, Oregon Health and Sciences University: Collection method of the submission from Knight Diagnostic Laboratories, Oregon Health and Sciences University:
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_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys) rs189916631 0.00095
NM_032040.5(CCDC8):c.43C>T (p.Arg15Trp) rs200189331 0.00022

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