ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Laboratory of Human Genetics,Universidade de São Paulo and "pathogenic" from any submitter

Minimum review status of the submission from Laboratory of Human Genetics,Universidade de São Paulo: Collection method of the submission from Laboratory of Human Genetics,Universidade de São Paulo:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_181458.4(PAX3):c.142G>C (p.Gly48Arg) rs1419548558

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