ClinVar Miner

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

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: 5
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904 0.00175
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) rs149278000 0.00020
NM_001126049.2(KLLN):c.-1007C>G rs587780001

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