ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics and "benign" from GeneDx

Minimum review status of the submission from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 35
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HGVS dbSNP gnomAD frequency
NM_020435.4(GJC2):c.947C>T (p.Pro316Leu) rs760502262 0.00823
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu) rs114819130 0.00617
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107 0.00545
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710 0.00475
NM_052865.4(MGME1):c.532C>T (p.Arg178Trp) rs143417446 0.00443
NM_007374.3(SIX6):c.385G>A (p.Glu129Lys) rs146737847 0.00428
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_001040436.3(YARS2):c.1275-2dup rs565781501 0.00357
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_018341.3(ERMARD):c.1162A>G (p.Asn388Asp) rs151283330 0.00282
NM_018127.7(ELAC2):c.560-2A>G rs149733287 0.00275
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser) rs76440173 0.00267
NM_152743.4(BRAT1):c.2353C>T (p.Arg785Trp) rs61729932 0.00249
NM_001384732.1(CPLANE1):c.8958+4A>C rs199810663 0.00237
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_000540.3(RYR1):c.271-7C>G rs192495718 0.00197
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met) rs141202530 0.00192
NM_007215.4(POLG2):c.122G>A (p.Gly41Glu) rs146504115 0.00175
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
NM_033641.4(COL4A6):c.2653G>T (p.Val885Phe) rs112034997 0.00129
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys) rs193036129 0.00123
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297 0.00088
NM_000098.3(CPT2):c.353A>G (p.Asp118Gly) rs148035648 0.00085
NM_003482.4(KMT2D):c.9662C>A (p.Thr3221Asn) rs200601717 0.00078
NM_002180.3(IGHMBP2):c.548-10T>G rs139207271 0.00065
NM_001267550.2(TTN):c.23378-10C>A rs72648975 0.00051
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys) rs201352584 0.00019
NM_020822.3(KCNT1):c.3058C>T (p.Arg1020Cys) rs747605326 0.00014
NM_006766.5(KAT6A):c.5740A>G (p.Met1914Val) rs750315709 0.00010
NM_024665.7(TBL1XR1):c.1424C>T (p.Ala475Val) rs753533374 0.00005
NM_001374828.1(ARID1B):c.1292CAG[4] (p.Ala433dup) rs797045267
NM_001374828.1(ARID1B):c.1303GGC[7] (p.Gly440dup) rs797045268

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