ClinVar Miner

Variants with conflicting interpretations "likely benign" from Labcorp Genetics (formerly Invitae), Labcorp and "uncertain significance" from Genomic Research Center, Shahid Beheshti University of Medical Sciences

Minimum review status of the submission from Labcorp Genetics (formerly Invitae), Labcorp: Collection method of the submission from Labcorp Genetics (formerly Invitae), Labcorp:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 39
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HGVS dbSNP gnomAD frequency
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_001067.4(TOP2A):c.1737+5G>A rs140672916 0.00369
NM_021870.3(FGG):c.571G>A (p.Gly191Arg) rs6063 0.00339
NM_001386125.1(OBSCN):c.35T>A (p.Phe12Tyr) rs191837710 0.00319
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591 0.00188
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn) rs144486825 0.00176
NM_000293.3(PHKB):c.574A>G (p.Ile192Val) rs117218785 0.00165
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00145
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) rs146264035 0.00143
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903 0.00124
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011 0.00081
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 0.00077
NM_001620.3(AHNAK):c.10589A>G (p.Lys3530Arg) rs143895650 0.00025
NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp) rs200389929 0.00015
NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu) rs148370803 0.00010
NM_020964.3(EPG5):c.2373C>T (p.Asp791=) rs552419530 0.00009
NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile) rs568371168 0.00007
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met) rs769795690 0.00006
NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser) rs371816961 0.00004
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=) rs377320336 0.00004
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn) rs375640462 0.00003
NM_001040716.2(PC):c.1607C>T (p.Pro536Leu) rs751657066 0.00003
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser) rs752201545 0.00003
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met) rs760771706 0.00003
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464 0.00002
NM_005660.3(SLC35A2):c.485G>A (p.Arg162His) rs782305321 0.00002
NM_015443.4(KANSL1):c.112G>A (p.Gly38Ser) rs770738115 0.00002
NM_000159.4(GCDH):c.826G>T (p.Val276Leu) rs763300541 0.00001
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe) rs760483684 0.00001
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn) rs778403814 0.00001
NM_000540.3(RYR1):c.7927-7C>T rs886054395
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del) rs750710267
NM_001139.3(ALOX12B):c.1566G>T (p.Pro522=) rs936466427
NM_001164508.2(NEB):c.9631G>A (p.Glu3211Lys) rs757944456
NM_001374828.1(ARID1B):c.1281_1295del (p.Ala429_Ala433del) rs1457993750
NM_001709.5(BDNF):c.5C>T (p.Thr2Ile) rs8192466
NM_002618.4(PEX13):c.383G>T (p.Gly128Val) rs554152771
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup) rs786200971
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del) rs55889738

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