ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Gharavi Laboratory, Columbia University and "benign" from GeneDx

Minimum review status of the submission from Gharavi Laboratory, Columbia University: Collection method of the submission from Gharavi Laboratory, Columbia University:
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_001110556.2(FLNA):c.2609A>G (p.His870Arg) rs200679107 0.00009
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser) rs781993685 0.00001
NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His) rs1569155643
NM_139058.3(ARX):c.306GGC[5] (p.Ala111_Ala115del) rs387906492
NR_178195.1(LFNG):n.265_268GATG[8] rs34637446

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