ClinVar Miner

Variants with conflicting interpretations "benign" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories and "uncertain significance" from GeneDx

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_000552.5(VWF):c.5170+10C>T rs61750601 0.00400
NM_000518.4(HBB):c.-133G>A rs72561473 0.00312
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln) rs191428830 0.00228
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) rs144888041 0.00212
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser) rs199910006 0.00071
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
NM_001128228.3(TPRN):c.1094A>G (p.Gln365Arg) rs780953179 0.00028
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676 0.00003
NM_005529.7(HSPG2):c.2520C>T (p.Asp840=) rs544565016 0.00003
NM_001110556.2(FLNA):c.4503C>T (p.Asp1501=) rs1324926264 0.00002
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_015046.7(SETX):c.7200-11_7200-10del rs531485265

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