ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine and "pathogenic" from any submitter

Minimum review status of the submission from Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine: Collection method of the submission from Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.-189G>T rs387906520
NM_000321.3(RB1):c.-206_-189del rs2138025895
NM_000321.3(RB1):c.1345G>A (p.Gly449Arg) rs1131690851
NM_000321.3(RB1):c.1589A>G (p.Lys530Arg) rs1948534047
NM_000321.3(RB1):c.1700C>T (p.Ser567Leu) rs137853292
NM_000321.3(RB1):c.2117G>A (p.Cys706Tyr)
NM_000321.3(RB1):c.2520+5G>A rs1131690881
NM_000321.3(RB1):c.2520+5G>C rs1131690881
NM_000321.3(RB1):c.2520+5G>T rs1131690881
NM_000321.3(RB1):c.34_71del (p.Thr12fs) rs2138027150
NM_000321.3(RB1):c.857A>G (p.Asp286Gly) rs1131690864

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