ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Baylor Genetics and "likely pathogenic" from PreventionGenetics, part of Exact Sciences

Minimum review status of the submission from Baylor Genetics: Collection method of the submission from Baylor Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) rs772019064 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000466.3(PEX1):c.3208-1G>A rs1057517518 0.00001
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971

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