ClinVar Miner

Variants from Vantari Genetics with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Vantari Genetics: Collection method of the submission from Vantari Genetics:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
22 33 0 48 14 0 0 61

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Vantari Genetics likely pathogenic uncertain significance likely benign benign
pathogenic 1 0 0 0
uncertain significance 0 0 8 9
likely benign 0 0 0 26
benign 0 1 21 0

Submitter to submitter summary #

Total submitters: 7
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Ambry Genetics 0 45 0 28 13 0 0 41
Color Health, Inc 0 45 0 16 8 0 0 24
True Health Diagnostics 0 25 0 17 3 0 0 20
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 7 0 10 2 0 0 12
Invitae 0 1 0 0 2 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 1 0 2 0 0 0 2
GeneKor MSA 0 2 0 2 0 0 0 2

All variants with conflicting interpretations #

Total variants: 61
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.544G>C (p.Val182Leu) rs3218707
NM_000051.3(ATM):c.5497-8T>C rs3092829
NM_000051.3(ATM):c.8786+8A>C rs4986839
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000059.3(BRCA2):c.3479G>A (p.Arg1160Lys) rs183920365
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.4(BRCA2):c.7435+6G>A rs81002852
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000179.2(MSH6):c.457+13A>G rs1800933
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007
NM_000245.4(MET):c.71G>A (p.Gly24Glu) rs180985111
NM_000245.4(MET):c.959C>T (p.Ala320Val) rs35776110
NM_000251.2(MSH2):c.1387-8G>T rs187525243
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000546.5(TP53):c.993+12T>C rs1800899
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536
NM_001354630.1(MLH1):c.1732-878_1732-877delinsGC rs35502531
NM_002354.2(EPCAM):c.492-5T>C rs78608315
NM_002485.4(NBN):c.2146A>G (p.Asn716Asp) rs72563785
NM_002691.4(POLD1):c.56G>A (p.Arg19His) rs3218773
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp) rs79732150
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706
NM_005732.4(RAD50):c.3036+5G>A rs181016343
NM_005732.4(RAD50):c.671G>A (p.Arg224His) rs28903088
NM_006206.6(PDGFRA):c.236G>A (p.Gly79Asp) rs36035373
NM_006231.3(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.4(BRCA1):c.5406+8T>C rs55946644
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_012222.2(MUTYH):c.1576C>A (p.Leu526Met) rs3219496
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105
NM_024675.3(PALB2):c.1010T>C (p.Leu337Ser) rs45494092
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_024675.3(PALB2):c.2993G>A (p.Gly998Glu) rs45551636
NM_024675.3(PALB2):c.629C>T (p.Pro210Leu) rs57605939
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440

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