ClinVar Miner

Variants with conflicting interpretations studied for Congenital Stationary Night Blindness, Recessive

Coded as:
Minimum review status of the submission for Congenital Stationary Night Blindness, Recessive: Y axis collection method of the submission for Congenital Stationary Night Blindness, Recessive:
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
306 19 0 16 14 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
Congenital Stationary Night Blindness, Recessive likely benign benign
uncertain significance 8 6
likely benign 0 16

Condition to condition summary #

Total conditions: 4
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 15 10 0 0 25
Congenital stationary night blindness, type 1E 0 0 0 0 3 0 0 3
Congenital stationary night blindness, type 2B 0 0 0 0 1 0 0 1
not provided 0 14 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 30
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HGVS dbSNP
NM_001004334.3(GPR179):c.1478A= (p.His493=) rs4550493
NM_001004334.3(GPR179):c.2022C>T (p.Asp674=) rs79623844
NM_001004334.3(GPR179):c.2392G>A (p.Ala798Thr) rs78470373
NM_001004334.3(GPR179):c.3847C>T (p.Pro1283Ser) rs150125328
NM_001004334.3(GPR179):c.4709C>T (p.Thr1570Met) rs187512697
NM_001004334.3(GPR179):c.4888G>C (p.Glu1630Gln) rs149998444
NM_001004334.3(GPR179):c.5563C>G (p.Leu1855Val) rs79954845
NM_001004334.3(GPR179):c.5605C>G (p.Gln1869Glu) rs4399578
NM_001004334.3(GPR179):c.5975G>A (p.Gly1992Asp) rs200936863
NM_001004334.3(GPR179):c.6824T>C (p.Leu2275Pro) rs148601715
NM_002420.6(TRPM1):c.168T>C (p.Tyr56=) rs74010762
NM_002420.6(TRPM1):c.2083G>C (p.Ala695Pro) rs138944426
NM_002420.6(TRPM1):c.3483G>C (p.Gln1161His) rs182549235
NM_002420.6(TRPM1):c.3686A>C (p.Asn1229Thr) rs17227996
NM_002420.6(TRPM1):c.4264C>T (p.Arg1422Cys) rs3784587
NM_004727.3(SLC24A1):c.1822G>A (p.Val608Ile) rs35984752
NM_004727.3(SLC24A1):c.1859C>T (p.Ala620Val) rs35398714
NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val) rs201943537
NM_004727.3(SLC24A1):c.2594A>G (p.Glu865Gly) rs142249570
NM_004727.3(SLC24A1):c.931G>C (p.Val311Leu) rs34363823
NM_004727.3(SLC24A1):c.937T>G (p.Leu313Val) rs35571449
NM_145200.4(CABP4):c.192C>T (p.Pro64=) rs1790765
NM_145200.4(CABP4):c.360C>T (p.Phe120=) rs192900242
NM_145200.4(CABP4):c.541+7_541+8delinsGC rs34039523
NM_145200.4(CABP4):c.800-5C>T rs72934713
NM_198506.5(LRIT3):c.1182A>G (p.Thr394=) rs184650144
NM_198506.5(LRIT3):c.1184_1186CTT[1] (p.Ser396del) rs794727660
NM_198506.5(LRIT3):c.1509G>A (p.Thr503=) rs76587489
NM_198506.5(LRIT3):c.331C>G (p.Arg111Gly) rs79039619
NM_198506.5(LRIT3):c.565C>T (p.Leu189Phe) rs75301950

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