ClinVar Miner

Variants with conflicting interpretations studied for Mitochondrial myopathy and sideroblastic anemia

Coded as:
Minimum review status of the submission for Mitochondrial myopathy and sideroblastic anemia: Y axis collection method of the submission for Mitochondrial myopathy and sideroblastic anemia:
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 Variants with at least 2 submissions 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 kind of conflict
17 19 0 16 16 0 0 32

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
Mitochondrial myopathy and sideroblastic anemia likely benign benign
uncertain significance 14 4
likely benign 0 16

Condition to condition summary #

Total conditions: 3
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
not specified 0 0 0 5 11 0 0 16
Lethal Encephalopathy 0 7 0 10 5 0 0 15
not provided 0 2 0 3 3 0 0 6

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_001040436.3(YARS2):c.*126_*127del rs141873255
NM_001040436.3(YARS2):c.*142T>C rs190589666
NM_001040436.3(YARS2):c.*209G>C rs10844337
NM_001040436.3(YARS2):c.*230A>G rs371690622
NM_001040436.3(YARS2):c.*360A>G rs567955032
NM_001040436.3(YARS2):c.*62G>A rs527443669
NM_001040436.3(YARS2):c.*643G>A rs11052214
NM_001040436.3(YARS2):c.1026G>A (p.Arg342=) rs35339227
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp) rs149447502
NM_001040436.3(YARS2):c.291C>T (p.Gly97=) rs11539444
NM_001040436.3(YARS2):c.456G>A (p.Ala152=) rs201940521
NM_001040436.3(YARS2):c.477C>T (p.Phe159=) rs774325742
NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln) rs147630375
NM_001040436.3(YARS2):c.572G>T (p.Gly191Val) rs11539445
NM_001040436.3(YARS2):c.819A>G (p.Leu273=) rs149781186
NM_001040436.3(YARS2):c.870T>C (p.Val290=) rs142067801
NM_001040436.3(YARS2):c.930G>A (p.Pro310=) rs147551647
NM_012062.5(DNM1L):c.*1213G>T rs11052213
NM_012062.5(DNM1L):c.*1242G>A rs10844336
NM_012062.5(DNM1L):c.*1415T>C rs114366772
NM_012062.5(DNM1L):c.*21G>C rs1059422
NM_012062.5(DNM1L):c.*22A>T rs3200103
NM_012062.5(DNM1L):c.*271C>G rs1020670
NM_012062.5(DNM1L):c.*600C>T rs3600
NM_012062.5(DNM1L):c.*744A>T rs1971911
NM_025215.6(PUS1):c.*16C>T rs116003934
NM_025215.6(PUS1):c.1020C>T (p.Phe340=) rs202059921
NM_025215.6(PUS1):c.1197C>T (p.Phe399=) rs35461276
NM_025215.6(PUS1):c.1266G>A (p.Gly422=) rs201441662
NM_025215.6(PUS1):c.364C>A (p.Arg122=) rs142954643
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) rs76655496
NM_025215.6(PUS1):c.894C>T (p.Val298=) rs201908893

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