ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Herman Laboratory, Nationwide Children's Hospital and "likely pathogenic" from any submitter

Minimum review status of the submission from Herman Laboratory, Nationwide Children's Hospital: Collection method of the submission from Herman Laboratory, Nationwide Children's Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000314.8(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.8(PTEN):c.284C>T (p.Pro95Leu) rs786204856
NM_000314.8(PTEN):c.401T>C (p.Met134Thr) rs1085308046
NM_000314.8(PTEN):c.635-3C>G rs1085308056
Single allele

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