ClinVar Miner

Variants with conflicting interpretations studied for Osteopetrosis

Coded as:
Minimum review status of the submission for Osteopetrosis: Y axis collection method of the submission for Osteopetrosis:
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
209 50 0 25 5 0 0 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
Osteopetrosis uncertain significance likely benign benign
uncertain significance 0 2 2
likely benign 1 0 24
benign 0 1 0

Condition to condition summary #

Total conditions: 6
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 6 0 23 2 0 0 25
not provided 0 8 0 2 1 0 0 3
Leigh syndrome 0 0 0 1 1 0 0 2
Mitochondrial complex I deficiency 0 0 0 1 1 0 0 2
Osteopetrosis autosomal recessive 1 0 1 0 0 1 0 0 1
Osteopetrosis autosomal recessive 4 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 30
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HGVS dbSNP
NM_001287.6(CLCN7):c.*19A>G rs11860968
NM_001287.6(CLCN7):c.1128G>A (p.Pro376=) rs12935737
NM_001287.6(CLCN7):c.1245T>C (p.Ile415=) rs12926669
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met) rs12926089
NM_001287.6(CLCN7):c.1614G>A (p.Ala538=) rs117461525
NM_001287.6(CLCN7):c.1798-10C>T rs35939214
NM_001287.6(CLCN7):c.1798-8G>A rs35915213
NM_001287.6(CLCN7):c.485-10T>C rs35280276
NM_001287.6(CLCN7):c.660C>T (p.His220=) rs12923538
NM_001287.6(CLCN7):c.900G>A (p.Ala300=) rs41286695
NM_002496.4(NDUFS8):c.*14C>T rs1051806
NM_002496.4(NDUFS8):c.*40A>G rs61329983
NM_003701.4(TNFSF11):c.147C>T (p.Phe49=) rs61735535
NM_003839.4(TNFRSF11A):c.-39G>A rs7238731
NM_003839.4(TNFRSF11A):c.-9T>C rs1805033
NM_003839.4(TNFRSF11A):c.421C>T (p.His141Tyr) rs35211496
NM_003839.4(TNFRSF11A):c.575C>T (p.Ala192Val) rs1805034
NM_003839.4(TNFRSF11A):c.625G>A (p.Val209Ile) rs146793660
NM_003839.4(TNFRSF11A):c.6C>G (p.Ala2=) rs35589394
NM_003839.4(TNFRSF11A):c.75+5G>A rs146553439
NM_003839.4(TNFRSF11A):c.933A>G (p.Thr311=) rs8092336
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419
NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp) rs36027301
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233
NM_006019.4(TCIRG1):c.2279_2284TGGGCC[3] (p.760_761LG[3]) rs199973759
NM_006019.4(TCIRG1):c.247A>G (p.Lys83Glu) rs142855299
NM_006019.4(TCIRG1):c.384C>T (p.His128=) rs3808973
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu) rs34227834
NM_014028.4(OSTM1):c.207G>T (p.Gly69=) rs80219951
NM_014028.4(OSTM1):c.221C>G (p.Pro74Arg) rs141735624

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