ClinVar Miner

Variants with conflicting interpretations between Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine

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
0 54 0 12 8 4 6 29

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 risk factor
pathogenic 0 7 1 0 0 1
likely pathogenic 4 0 6 0 0 0
uncertain significance 0 0 0 6 2 1
likely benign 0 0 0 0 1 0
drug response 1 1 0 0 0 0

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03825
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00334
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00111
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00064
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249 0.00046
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro) rs121918282 0.00036
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00022
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00010
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322 0.00007
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00006
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NC_012920.1:m.1494C>T rs267606619
NC_012920.1:m.1555A>G rs267606617
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer) rs752176040
Single allele

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