ClinVar Miner

Variants with conflicting interpretations between EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and Natera, Inc.

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
2503 77 0 3 18 3 1 25

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.

likely pathogenic uncertain significance likely benign benign
pathogenic 1 0 0 0
uncertain significance 1 0 12 4
likely benign 0 1 0 1
benign 0 1 1 0
other 0 0 0 3

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_000094.4(COL7A1):c.1907G>T rs116005007
NM_000109.4(DMD):c.1294G>A (p.Glu432Lys) rs189143447
NM_000126.4(ETFA):c.6C>T (p.Phe2=) rs749929239
NM_000128.3(F11):c.1305-9G>T rs4253426
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_001033855.3(DCLRE1C):c.420G>A (p.Ala140=) rs146832860
NM_004006.2(DMD):c.10677T>C (p.Ile3559=) rs765950547
NM_004006.2(DMD):c.4345-8C>T rs886044675
NM_004006.2(DMD):c.468A>C (p.Val156=) rs886044031
NM_004006.2(DMD):c.94-3C>T rs373907950
NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131
NM_005957.4(MTHFR):c.1761C>T (p.Ala587=) rs115049252
NM_005957.4(MTHFR):c.348C>T (p.Ala116=) rs144921426
NM_005957.4(MTHFR):c.708C>T (p.Phe236=) rs34279942
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile) rs143877538
NM_014251.3(SLC25A13):c.1506G>A (p.Pro502=) rs144494809
NM_015506.3(MMACHC):c.603T>C (p.Arg201=) rs398124294
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783

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