ClinVar Miner

Variants with conflicting interpretations between Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

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:
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 Variants with at least 2 submissions 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 kind of conflict
0 69 0 23 23 0 5 51

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 1 0 0
uncertain significance 1 2 0 2 2
likely benign 0 0 15 0 15
benign 0 1 4 5 0

All variants with conflicting interpretations #

Total variants: 51
Download table as spreadsheet
HGVS dbSNP
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000061.2(BTK):c.141+11C>T rs138411530
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000147.4(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_000157.4(GBA):c.1223C>T (p.Thr408Met) rs75548401
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000251.2(MSH2):c.23C>T (p.Thr8Met) rs17217716
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266
NM_001127221.1(CACNA1A):c.3043G>A (p.Glu1015Lys) rs16024
NM_001303.4(COX10):c.682C>T (p.Arg228Cys) rs114521946
NM_001916.5(CYC1):c.227T>C (p.Met76Thr) rs144257411
NM_002016.1(FLG):c.7801G>A (p.Asp2601Asn) rs146849256
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287
NM_002693.2(POLG):c.126_128GCA[13] (p.Gln54_Gln55dup) rs41550117
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_004046.6(ATP5F1A):c.25G>A (p.Ala9Thr) rs141639003
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_004589.4(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826
NM_005763.4(AASS):c.1678C>T (p.Pro560Ser) rs74882337
NM_007208.4(MRPL3):c.931G>A (p.Gly311Ser) rs148679749
NM_007294.3(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_014297.5(ETHE1):c.61G>T (p.Ala21Ser) rs116440799
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile) rs150539399
NM_018941.3(CLN8):c.685C>G (p.Pro229Ala) rs150047904
NM_020442.5(VARS2):c.2293G>A (p.Val765Met) rs55865499
NM_022445.4(TPK1):c.98G>A (p.Arg33His) rs77358162
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709
NM_025150.5(TARS2):c.1034A>G (p.His345Arg) rs115390773
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327
NM_025152.3(NUBPL):c.815-27T>C rs118161496
NM_080877.2(SLC34A3):c.448+1G>A rs150841256
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) rs62073570
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303
NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly) rs4675887

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