ClinVar Miner

Variants in gene RB1 with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.1206C>T (p.Ser402=) rs752679968 0.00001
NM_000321.3(RB1):c.1960G>A (p.Val654Met) rs483352690
NM_000321.3(RB1):c.1961T>A (p.Val654Glu) rs769113950
NM_000321.3(RB1):c.1964A>G (p.Tyr655Cys) rs774196937
NM_000321.3(RB1):c.2094G>C (p.Arg698Ser) rs1131690891

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