ClinVar Miner

Variants with conflicting interpretations studied for Brachydactyly

Coded as:
Minimum review status of the submission for Brachydactyly: Y axis collection method of the submission for Brachydactyly:
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
95 83 0 14 12 1 0 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.

All conditions
Brachydactyly uncertain significance likely benign benign risk factor
likely benign 12 0 12 0
benign 0 2 0 1

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 18 0 13 0 0 0 13
not provided 0 2 0 0 8 0 0 8
Robinow syndrome, autosomal recessive 0 0 0 0 4 0 0 4
Brachydactyly, type B1Robinow syndrome, autosomal recessive 0 0 0 0 1 0 0 1
Osteoarthritis of hip 0 0 0 0 0 1 0 1
Type A2 brachydactyly; Acromesomelic dysplasia, Demirhan type 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_000557.5(GDF5):c.-275= rs143383
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702
NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile) rs138801821
NM_001203.3(BMPR1B):c.705C>T (p.Thr235=) rs56083112
NM_002181.4(IHH):c.315+8C>T rs186249490
NM_002181.4(IHH):c.618C>T (p.Ala206=) rs3731879
NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln) rs767474960
NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu) rs56099091
NM_004560.4(ROR2):c.1710G>A (p.Pro570=) rs41277837
NM_004560.4(ROR2):c.1712A>G (p.His571Arg) rs376970201
NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr) rs142386294
NM_004560.4(ROR2):c.1959G>A (p.Leu653=) rs144549032
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu) rs34491822
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser) rs141235720
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile) rs10761129
NM_004560.4(ROR2):c.2466C>T (p.Asn822=) rs146432734
NM_004560.4(ROR2):c.2684A>G (p.Asp895Gly) rs149826387
NM_004560.4(ROR2):c.2727G>A (p.Val909=) rs56091954
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu) rs41277835
NM_004560.4(ROR2):c.568A>G (p.Thr190Ala) rs34574788
NM_004560.4(ROR2):c.678C>T (p.Phe226=) rs202159869
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala) rs10820900
NM_004560.4(ROR2):c.75G>A (p.Leu25=) rs148237260
NM_004560.4(ROR2):c.937+10C>T rs201083970
NM_004560.4(ROR2):c.986G>A (p.Ser329Asn) rs371221714

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