ClinVar Miner

Variants with conflicting interpretations "benign" from Genome Diagnostics Laboratory, Amsterdam University Medical Center and "risk factor" from any submitter

Minimum review status of the submission from Genome Diagnostics Laboratory, Amsterdam University Medical Center: Collection method of the submission from Genome Diagnostics Laboratory, Amsterdam University Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) rs28997576 0.01443
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061

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