ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology and "likely pathogenic" from Counsyl

Minimum review status of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology: Collection method of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248

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