ClinVar Miner

Variants with conflicting interpretations between EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
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
1 168 0 24 0 2 20 46

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
pathogenic 0 11
likely pathogenic 13 0
uncertain significance 8 11
likely benign 1 0
other 1 1

All variants with conflicting interpretations #

Total variants: 46
Download table as spreadsheet
HGVS dbSNP
NM_000036.2(AMPD1):c.133C>T (p.Gln45Ter) rs17602729
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) rs754012367
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000520.6(HEXA):c.1073+1G>A rs76173977
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274
NM_005633.3(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_014946.4(SPAST):c.1496G>A rs878854991
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_213599.2(ANO5):c.155A>G rs143777403
NM_213599.2(ANO5):c.1664G>T (p.Ser555Ile) rs375014127
NM_213599.2(ANO5):c.41-1G>A rs398124625

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.