ClinVar Miner

Variants in gene combination NEB, RIF1 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
279 41 0 39 27 0 4 65

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 15 2 0 0
likely pathogenic 15 0 2 0 0
uncertain significance 2 2 0 25 7
likely benign 0 0 25 0 24
benign 0 0 7 24 0

All variants with conflicting interpretations #

Total variants: 65
Download table as spreadsheet
HGVS dbSNP
NM_001271208.1(NEB):c.21511A>T (p.Met7171Leu) rs886038447
NM_001271208.1(NEB):c.21596G>A (p.Arg7199His) rs16830171
NM_001271208.1(NEB):c.21790G>C (p.Asp7264His) rs201979610
NM_001271208.1(NEB):c.21902C>T (p.Pro7301Leu) rs367626762
NM_001271208.1(NEB):c.21945+13A>C rs75515097
NM_001271208.1(NEB):c.22110G>A (p.Thr7370=) rs201400523
NM_001271208.1(NEB):c.22275C>G (p.Tyr7425Ter)
NM_001271208.1(NEB):c.22475G>C (p.Ser7492Thr) rs142454476
NM_001271208.1(NEB):c.22695+2T>C rs200449517
NM_001271208.1(NEB):c.23009G>A (p.Gly7670Glu) rs3732309
NM_001271208.1(NEB):c.23246G>A (p.Arg7749Gln) rs200963111
NM_001271208.1(NEB):c.23372T>C (p.Met7791Thr) rs201767727
NM_001271208.1(NEB):c.23383A>G (p.Asn7795Asp) rs201189784
NM_001271208.1(NEB):c.23483delT (p.Met7828Serfs) rs1553603690
NM_001271208.1(NEB):c.23582A>G (p.Asn7861Ser) rs143602832
NM_001271208.1(NEB):c.23704A>C (p.Lys7902Gln) rs118191309
NM_001271208.1(NEB):c.23881C>T (p.Pro7961Ser) rs193224180
NM_001271208.1(NEB):c.24072_24075delACCT (p.Pro8025Serfs) rs756384471
NM_001271208.1(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.1(NEB):c.24129_24133dup (p.Tyr8045Cysfs) rs772009599
NM_001271208.1(NEB):c.24146T>C (p.Val8049Ala) rs200269437
NM_001271208.1(NEB):c.24161C>T (p.Pro8054Leu) rs189655274
NM_001271208.1(NEB):c.24218C>A (p.Ser8073Ter) rs1458048713
NM_001271208.1(NEB):c.24219+1G>A rs755239192
NM_001271208.1(NEB):c.24313-7C>T rs113048349
NM_001271208.1(NEB):c.24314_24317dup (p.Leu8106Phefs) rs781667543
NM_001271208.1(NEB):c.24369G>A (p.Met8123Ile) rs144709880
NM_001271208.1(NEB):c.24444_24447delACCT (p.Pro8149Serfs) rs934111355
NM_001271208.1(NEB):c.24468_24469delAG (p.Arg8156Serfs) rs752582527
NM_001271208.1(NEB):c.24693C>G (p.Tyr8231Ter) rs754272530
NM_001271208.1(NEB):c.24770_24771delTT (p.Phe8257Terfs) rs794727136
NM_001271208.1(NEB):c.24771delT (p.Phe8257Leufs) rs794727136
NM_001271208.1(NEB):c.25140C>T (p.Asp8380=) rs201825451
NM_001271208.1(NEB):c.25255+12G>A rs4414676
NM_001271208.1(NEB):c.25288C>T (p.Arg8430Ter) rs747179265
NM_001271208.1(NEB):c.25319delG (p.Gly8440Valfs) rs1553520266
NM_001271208.1(NEB):c.25441C>T (p.Arg8481Ter) rs200731870
NM_001271208.1(NEB):c.25472C>T (p.Thr8491Met) rs78592085
NM_001271208.1(NEB):c.25647C>T (p.Thr8549=) rs3821324
NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter) rs763364977
NM_004543.4(NEB):c.16416C>T (p.Ser5472=) rs16830170
NM_004543.4(NEB):c.16443C>T (p.Asn5481=) rs149510427
NM_004543.4(NEB):c.16482A>G (p.Thr5494=) rs4664475
NM_004543.4(NEB):c.16617C>T (p.Tyr5539=) rs34718443
NM_004543.4(NEB):c.16753G>A (p.Asp5585Asn) rs35625617
NM_004543.4(NEB):c.16758G>A (p.Arg5586=) rs372808358
NM_004543.4(NEB):c.16860A>G (p.Lys5620=) rs61730765
NM_004543.4(NEB):c.16947+13C>T rs113403461
NM_004543.4(NEB):c.17169+7T>C rs762551492
NM_004543.4(NEB):c.17325C>T (p.Leu5775=) rs371431256
NM_004543.4(NEB):c.17775C>A (p.Ala5925=) rs185574478
NM_004543.4(NEB):c.17910C>T (p.Ser5970=) rs370873040
NM_004543.4(NEB):c.17952G>A (p.Gly5984=) rs563896790
NM_004543.4(NEB):c.18024+2T>C rs112610938
NM_004543.4(NEB):c.18278C>T (p.Ser6093Leu) rs41270201
NM_004543.4(NEB):c.18392C>T (p.Thr6131Ile) rs34368668
NM_004543.4(NEB):c.18408G>A (p.Thr6136=) rs35808744
NM_004543.4(NEB):c.18546+10_18546+11del rs772001300
NM_004543.4(NEB):c.18865G>C (p.Ala6289Pro) rs7575451
NM_004543.4(NEB):c.18952G>A (p.Ala6318Thr) rs199937246
NM_004543.4(NEB):c.19189A>G (p.Ile6397Val) rs551649582
NM_004543.4(NEB):c.19470A>G (p.Gln6490=) rs184319249
NM_004543.4(NEB):c.19636A>G (p.Ile6546Val) rs1061305
NM_004543.4(NEB):c.19827T>G (p.Ser6609=) rs13031275
NM_004543.4(NEB):c.19996G>A (p.Val6666Ile) rs117861109

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.