ClinVar Miner

Variants with conflicting interpretations "benign" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "uncertain significance" from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
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 gnomAD frequency
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007 0.00183
NM_001035.3(RYR2):c.8209-3A>G rs376788358 0.00047
NM_001126049.2(KLLN):c.-1007C>G rs587780001

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