ClinVar Miner

Variants with conflicting interpretations studied for ADGRV1-related condition

Minimum review status of the submission for ADGRV1-related condition: Collection method of the submission for ADGRV1-related condition:
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
21 39 0 37 44 0 1 68

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 conditions
ADGRV1-related condition pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 1 0 0 0 0
uncertain significance 0 1 0 7 0
likely benign 0 0 35 0 27
benign 0 0 2 9 0

Condition to condition summary #

Total conditions: 3
Download table as spreadsheet
Condition 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
not provided 0 40 0 34 42 0 0 66
not specified 0 35 0 23 5 0 0 27
Abnormal activity of mitochondrial respiratory chain 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 68
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr) rs111033530 0.01127
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys) rs147062294 0.00492
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919 0.00429
NM_032119.4(ADGRV1):c.10796G>C (p.Gly3599Ala) rs145294917 0.00394
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp) rs201586455 0.00391
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) rs199839743 0.00372
NM_032119.4(ADGRV1):c.18746T>G (p.Leu6249Arg) rs41311625 0.00324
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val) rs186999408 0.00271
NM_032119.4(ADGRV1):c.22+9T>C rs368604803 0.00236
NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val) rs199873924 0.00221
NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=) rs143004930 0.00205
NM_032119.4(ADGRV1):c.14943G>C (p.Gln4981His) rs200153555 0.00202
NM_032119.4(ADGRV1):c.10126A>G (p.Ile3376Val) rs200528472 0.00195
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr) rs145556097 0.00195
NM_032119.4(ADGRV1):c.12527+6G>T rs141701016 0.00192
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala) rs113498662 0.00189
NM_032119.4(ADGRV1):c.8088G>A (p.Leu2696=) rs373069459 0.00178
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu) rs61744480 0.00177
NM_032119.4(ADGRV1):c.15786C>T (p.Phe5262=) rs369083434 0.00149
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met) rs146954342 0.00145
NM_032119.4(ADGRV1):c.8815C>T (p.Pro2939Ser) rs202211640 0.00137
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977 0.00131
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=) rs186639101 0.00126
NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu) rs200187681 0.00115
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) rs41305898 0.00104
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297 0.00088
NM_032119.4(ADGRV1):c.16285G>A (p.Glu5429Lys) rs183851734 0.00086
NM_032119.4(ADGRV1):c.9083A>G (p.Asn3028Ser) rs150549897 0.00085
NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=) rs200946170 0.00078
NM_032119.4(ADGRV1):c.2740T>C (p.Tyr914His) rs189967386 0.00064
NM_032119.4(ADGRV1):c.1131T>G (p.Ser377=) rs200435877 0.00062
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys) rs199587998 0.00059
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=) rs182990046 0.00049
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=) rs376298949 0.00048
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) rs370906851 0.00039
NM_032119.4(ADGRV1):c.18040T>C (p.Phe6014Leu) rs201420881 0.00039
NM_032119.4(ADGRV1):c.357+8C>T rs376004946 0.00039
NM_032119.4(ADGRV1):c.596G>T (p.Ser199Ile) rs61745496 0.00031
NM_032119.4(ADGRV1):c.14466G>A (p.Val4822=) rs117641264 0.00029
NM_032119.4(ADGRV1):c.3022+8T>C rs375286987 0.00027
NM_032119.4(ADGRV1):c.3741G>A (p.Glu1247=) rs371571867 0.00026
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys) rs201583659 0.00025
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) rs138908576 0.00020
NM_032119.4(ADGRV1):c.1317C>T (p.Ser439=) rs368171530 0.00014
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn) rs182395524 0.00014
NM_032119.4(ADGRV1):c.12476A>C (p.His4159Pro) rs200805176 0.00012
NM_032119.4(ADGRV1):c.15113T>C (p.Ile5038Thr) rs192561791 0.00008
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met) rs756414393 0.00007
NM_032119.4(ADGRV1):c.17187C>T (p.Cys5729=) rs371639191 0.00006
NM_032119.4(ADGRV1):c.3958C>T (p.Arg1320Cys) rs532745096 0.00006
NM_032119.4(ADGRV1):c.11253C>T (p.Tyr3751=) rs376689763 0.00005
NM_032119.4(ADGRV1):c.11071G>A (p.Ala3691Thr) rs370941998 0.00004
NM_032119.4(ADGRV1):c.14970C>A (p.Leu4990=) rs368420512 0.00004
NM_032119.4(ADGRV1):c.2474A>T (p.Asn825Ile) rs374034519 0.00004
NM_032119.4(ADGRV1):c.10339G>A (p.Glu3447Lys) rs397517419 0.00003
NM_032119.4(ADGRV1):c.5313+4A>G rs748976832 0.00003
NM_032119.4(ADGRV1):c.8308T>C (p.Phe2770Leu) rs375272281 0.00002
NM_032119.4(ADGRV1):c.-26_-9del rs773996398 0.00001
NM_032119.4(ADGRV1):c.1140A>G (p.Gln380=) rs373902384 0.00001
NM_032119.4(ADGRV1):c.1799A>G (p.Asn600Ser) rs876657823 0.00001
NM_032119.4(ADGRV1):c.2800C>G (p.Pro934Ala) rs149600158 0.00001
NM_032119.4(ADGRV1):c.2820A>G (p.Val940=) rs369910075 0.00001
NM_032119.4(ADGRV1):c.1176_1179del (p.Leu393fs) rs1166741724
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_032119.4(ADGRV1):c.18433-9_18433-5del rs35858094
NM_032119.4(ADGRV1):c.18803-4G>T rs80335659
NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His) rs41303352
NM_032119.4(ADGRV1):c.8730+9_8730+10del rs780180737

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.