ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Swedish Neurofibromatosis Center,Swedish Medical Center and "uncertain significance" from any submitter

Minimum review status of the submission from Swedish Neurofibromatosis Center,Swedish Medical Center: Collection method of the submission from Swedish Neurofibromatosis Center,Swedish Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP
NM_000268.4(NF2):c.641T>C (p.Leu214Pro) rs1601618585
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu)
NM_001042492.3(NF1):c.5548G>T (p.Val1850Phe) rs1597832397

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