ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital and "likely benign" from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Minimum review status of the submission from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital: Collection method of the submission from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356

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