ClinVar Miner

Variants with conflicting interpretations studied for Leigh syndrome

Coded as:
Minimum review status of the submission for Leigh syndrome: Collection method of the submission for Leigh syndrome:
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
3276 61 0 17 8 0 5 30

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
Leigh syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 12 3 0 0
likely pathogenic 12 0 2 0 0
uncertain significance 3 2 0 7 1
likely benign 0 0 7 0 5
benign 0 0 1 5 0

Condition to condition summary #

Total conditions: 1
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
Leigh syndrome 3276 61 0 17 8 0 5 30

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003172.4(SURF1):c.573C>G (p.Thr191=) rs28715079 0.05492
NM_003172.4(SURF1):c.280T>C (p.Leu94=) rs28615629 0.04975
NM_003172.4(SURF1):c.543C>T (p.Phe181=) rs62637580 0.01036
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421 0.00570
NM_003172.4(SURF1):c.604G>C (p.Asp202His) rs72619327 0.00517
NM_003172.4(SURF1):c.54+10G>A rs587598397 0.00276
NM_003172.4(SURF1):c.211G>C (p.Val71Leu) rs147993882 0.00099
NM_003172.4(SURF1):c.321C>T (p.Ala107=) rs141425824 0.00007
NM_003172.4(SURF1):c.507C>T (p.Thr169=) rs782614599 0.00005
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys) rs755312472 0.00003
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904 0.00002
NM_003172.4(SURF1):c.106+15C>G rs781892153 0.00001
NM_003172.4(SURF1):c.366C>T (p.Val122=) rs886063630 0.00001
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln) rs782021521 0.00001
NM_003172.4(SURF1):c.74G>A (p.Trp25Ter) rs1187982748 0.00001
NM_003172.4(SURF1):c.801G>A (p.Leu267=) rs782120692 0.00001
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NC_012920.1(MT-ND3):m.10197G>A rs267606891
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) rs863224229
NM_003172.4(SURF1):c.183_186del (p.Leu62fs) rs1433471292
NM_003172.4(SURF1):c.226T>C (p.Leu76=) rs782036327
NM_003172.4(SURF1):c.281dup (p.Leu94fs) rs1588691786
NM_003172.4(SURF1):c.532A>T (p.Asn178Tyr) rs587753385
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) rs782289759
NM_003172.4(SURF1):c.631_632del (p.Glu211fs) rs1554768333
NM_003172.4(SURF1):c.754_755del rs782007828
NM_003172.4(SURF1):c.799_800del (p.Leu267fs) rs864309500
NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup) rs782161777
NM_003172.4(SURF1):c.833+1G>C rs782609482
NM_017446.4(MRPL39):c.526del (p.Ser176fs)

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