ClinVar Miner

Variants from JKU Lab, Dept of Paediatrics, Johannes Kepler University with conflicting interpretations

Location: Austria  Primary collection method: clinical testing
Minimum review status of the submission from JKU Lab, Dept of Paediatrics, Johannes Kepler University: Collection method of the submission from JKU Lab, Dept of Paediatrics, Johannes Kepler University:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
35 81 0 30 2 0 39 69

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 submitters
JKU Lab, Dept of Paediatrics, Johannes Kepler University pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 6 1 0 0
likely pathogenic 22 0 21 0 0
uncertain significance 1 15 0 1 1
likely benign 0 1 1 0 2

Submitter to submitter summary #

Total submitters: 9
Download table as spreadsheet
Submitter 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
Genomenon, Inc, Genomenon, Inc 0 87 0 19 2 0 33 54
Natera, Inc. 0 25 0 8 1 0 3 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 12 0 9 0 0 3 12
Fulgent Genetics, Fulgent Genetics 0 21 0 4 1 0 4 9
Illumina Laboratory Services, Illumina 0 8 0 2 1 0 1 4
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 1 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399 0.00860
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00101
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr) rs199669988 0.00011
NM_000478.6(ALPL):c.1540G>A (p.Ala514Thr) rs367657406 0.00008
NM_000478.6(ALPL):c.371A>G (p.Asn124Ser) rs11586344 0.00006
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010 0.00004
NM_000478.6(ALPL):c.1120G>A (p.Val374Met) rs552831415 0.00003
NM_000478.6(ALPL):c.673T>C (p.Tyr225His) rs759125473 0.00003
NM_000478.6(ALPL):c.306C>T (p.Asn102=) rs1015578994 0.00002
NM_000478.6(ALPL):c.44C>G (p.Thr15Ser) rs150849772 0.00002
NM_000478.6(ALPL):c.657G>T (p.Met219Ile) rs776117933 0.00002
NM_000478.6(ALPL):c.106A>C (p.Thr36Pro) rs747167000 0.00001
NM_000478.6(ALPL):c.1078G>A (p.Gly360Arg) rs749989499 0.00001
NM_000478.6(ALPL):c.1310C>T (p.Ala437Val) rs1437787933 0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) rs766656419 0.00001
NM_000478.6(ALPL):c.1436A>G (p.Tyr479Cys) rs1235350055 0.00001
NM_000478.6(ALPL):c.613G>A (p.Ala205Thr) rs751455369 0.00001
NM_000478.6(ALPL):c.643A>G (p.Ile215Val) rs769903299 0.00001
NM_000478.6(ALPL):c.1015G>A (p.Gly339Arg) rs2148189619
NM_000478.6(ALPL):c.1024_1025delinsTT (p.Glu342Leu)
NM_000478.6(ALPL):c.1033G>C (p.Ala345Pro)
NM_000478.6(ALPL):c.1034C>T (p.Ala345Val) rs1644719715
NM_000478.6(ALPL):c.1098CTC[1] (p.Ser368del) rs1558557341
NM_000478.6(ALPL):c.1114_1115del (p.Leu372fs) rs1553414600
NM_000478.6(ALPL):c.1132G>T (p.Asp378Tyr) rs1553414611
NM_000478.6(ALPL):c.113_116del (p.Lys38fs)
NM_000478.6(ALPL):c.1151C>G (p.Thr384Arg) rs2148190082
NM_000478.6(ALPL):c.1171dup (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.1195G>A (p.Ala399Thr)
NM_000478.6(ALPL):c.1207A>C (p.Ser403Arg)
NM_000478.6(ALPL):c.1213A>C (p.Thr405Pro) rs2545347156
NM_000478.6(ALPL):c.1243T>G (p.Tyr415Asp) rs2148192455
NM_000478.6(ALPL):c.1252G>A (p.Gly418Arg)
NM_000478.6(ALPL):c.1258G>A (p.Gly420Ser) rs1644740557
NM_000478.6(ALPL):c.1259G>C (p.Gly420Ala) rs2545347491
NM_000478.6(ALPL):c.1283G>A (p.Arg428Gln) rs1644741201
NM_000478.6(ALPL):c.1366G>A (p.Gly456Arg) rs121918016
NM_000478.6(ALPL):c.1399A>G (p.Met467Val)
NM_000478.6(ALPL):c.1444C>T (p.His482Tyr) rs780857373
NM_000478.6(ALPL):c.1447G>A (p.Val483Met)
NM_000478.6(ALPL):c.146A>T (p.Asn49Ile) rs868522953
NM_000478.6(ALPL):c.1483G>A (p.Gly495Ser) rs761079751
NM_000478.6(ALPL):c.1487A>G (p.His496Arg) rs1644757200
NM_000478.6(ALPL):c.1491_1492del (p.Ala498fs)
NM_000478.6(ALPL):c.178G>C (p.Asp60His) rs1644472852
NM_000478.6(ALPL):c.17T>C (p.Leu6Ser)
NM_000478.6(ALPL):c.182-1G>A
NM_000478.6(ALPL):c.194C>A (p.Ser65Tyr) rs1644478359
NM_000478.6(ALPL):c.244G>A (p.Gly82Arg) rs2545292224
NM_000478.6(ALPL):c.244G>C (p.Gly82Arg) rs2545292224
NM_000478.6(ALPL):c.286G>C (p.Ala96Pro) rs2545292484
NM_000478.6(ALPL):c.297+5G>A rs776187726
NM_000478.6(ALPL):c.304_312dup (p.Asn104_Ala105insAsnThrAsn)
NM_000478.6(ALPL):c.361G>A (p.Val121Met) rs1476072388
NM_000478.6(ALPL):c.379A>G (p.Thr127Ala) rs1570273880
NM_000478.6(ALPL):c.380C>T (p.Thr127Ile)
NM_000478.6(ALPL):c.41T>C (p.Leu14Pro) rs2148135377
NM_000478.6(ALPL):c.495CAC[1] (p.Thr167del) rs2545303392
NM_000478.6(ALPL):c.560A>G (p.Tyr187Cys) rs2545303934
NM_000478.6(ALPL):c.644T>C (p.Ile215Thr)
NM_000478.6(ALPL):c.650delinsCTAA (p.Val217delinsAlaLys) rs1553413155
NM_000478.6(ALPL):c.675_676insCA (p.Met226fs) rs2545317081
NM_000478.6(ALPL):c.69_74del rs2148150789
NM_000478.6(ALPL):c.715G>T (p.Asp239Tyr) rs1416572796
NM_000478.6(ALPL):c.738G>T (p.Arg246Ser) rs1223142821
NM_000478.6(ALPL):c.793-30_793-11del rs2545324149
NM_000478.6(ALPL):c.855C>G (p.Tyr285Ter) rs2545324707
NM_000478.6(ALPL):c.928dup (p.Ser310fs)
NM_000478.6(ALPL):c.94C>T (p.Gln32Ter) rs1209147330

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.