ClinVar Miner

Variants with conflicting interpretations between Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and OMIM

Minimum review status of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne: Collection method of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne:
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
86 83 0 23 0 2 13 38

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 23
uncertain significance 9
likely benign 4
drug response 2

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP
NC_012920.1:m.1494C>T rs267606619
NC_012920.1:m.1555A>G rs267606617
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688
NM_000277.3(PAH):c.842+1G>A rs5030852
NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) rs121909298
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000755.5(CRAT):c.962G>A (p.Arg321His) rs138665095
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) rs1603360542
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137
NM_001383.4(DPH1):c.374T>C (p.Leu125Pro) rs200530055
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_003104.6(SORD):c.757del (p.Ala253fs)
NM_004044.7(ATIC):c.406G>A (p.Ala136Thr) rs1575116846
NM_004615.3(TSPAN7):c.515C>A (p.Pro172His) rs104894951
NM_005262.3(GFER):c.219del (p.Cys74fs) rs1597063051
NM_005262.3(GFER):c.259-25_259-24del rs1597063303
NM_006796.2(AFG3L2):c.1961C>T (p.Thr654Ile) rs151344513
NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp) rs879255685
NM_014423.4(AFF4):c.761C>G (p.Thr254Ser) rs786205679
NM_014423.4(AFF4):c.772C>T (p.Arg258Trp) rs786205680
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys) rs202238194
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018400.3(SCN3B):c.29T>C (p.Leu10Pro) rs121918282
NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer) rs886039767
NM_022893.4(BCL11A):c.154C>T (p.Gln52Ter) rs886037868
NM_024339.5(THOC6):c.135C>A (p.Tyr45Ter) rs772533643
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_078480.3(PUF60):c.24+1G>C rs1064795388
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr) rs74315448
NM_177550.4(SLC13A5):c.1463T>C (p.Leu488Pro) rs587777578

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