ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital and "benign" from any submitter

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:
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Total variants with conflicting interpretations: 10
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HGVS dbSNP
NM_000348.4(SRD5A2):c.*43G>A rs28383082
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439
NM_001126049.2(KLLN):c.-1007C>G rs587780001
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635

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