ClinVar Miner

Variants with conflicting interpretations studied for LAMA5-related disorder

Minimum review status of the submission for LAMA5-related disorder: Collection method of the submission for LAMA5-related disorder:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
104 163 0 56 12 0 2 68

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
LAMA5-related disorder pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 1 0 0 3 1
likely benign 0 1 7 0 41
benign 0 0 1 15 0

Condition to condition summary #

Total conditions: 4
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
not provided 0 166 0 55 11 0 0 65
not specified 0 7 0 2 1 0 0 3
Familial hematuria 0 0 0 0 0 0 1 1
Short stature 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 68
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005560.6(LAMA5):c.7374C>T (p.Ala2458=) rs146174815 0.00582
NM_005560.6(LAMA5):c.5203G>A (p.Val1735Met) rs45496002 0.00541
NM_005560.6(LAMA5):c.5627G>T (p.Gly1876Val) rs148177752 0.00506
NM_005560.6(LAMA5):c.7059G>A (p.Gln2353=) rs144109924 0.00492
NM_005560.6(LAMA5):c.7052G>A (p.Arg2351Gln) rs147290767 0.00428
NM_005560.6(LAMA5):c.8665C>T (p.Pro2889Ser) rs138708242 0.00426
NM_005560.6(LAMA5):c.8048-8C>G rs202247135 0.00394
NM_005560.6(LAMA5):c.2049C>G (p.Gly683=) rs75464861 0.00303
NM_005560.6(LAMA5):c.166G>T (p.Ala56Ser) rs557760409 0.00293
NM_005560.6(LAMA5):c.4405T>G (p.Ser1469Ala) rs144009130 0.00293
NM_005560.6(LAMA5):c.8091G>C (p.Leu2697=) rs41296219 0.00282
NM_005560.6(LAMA5):c.10361G>A (p.Arg3454Gln) rs192231400 0.00281
NM_005560.6(LAMA5):c.3062C>T (p.Ala1021Val) rs140927746 0.00174
NM_005560.6(LAMA5):c.6805G>A (p.Glu2269Lys) rs116765059 0.00169
NM_005560.6(LAMA5):c.6754G>A (p.Gly2252Ser) rs202167421 0.00165
NM_005560.6(LAMA5):c.7134G>C (p.Glu2378Asp) rs79658450 0.00163
NM_005560.6(LAMA5):c.4311A>T (p.Pro1437=) rs151096227 0.00159
NM_005560.6(LAMA5):c.6413G>T (p.Ser2138Ile) rs143066016 0.00158
NM_005560.6(LAMA5):c.10745G>A (p.Arg3582Gln) rs146292551 0.00140
NM_005560.6(LAMA5):c.8521C>T (p.His2841Tyr) rs149358620 0.00137
NM_005560.6(LAMA5):c.9390C>T (p.His3130=) rs138705828 0.00119
NM_005560.6(LAMA5):c.630C>T (p.Asp210=) rs141261581 0.00117
NM_005560.6(LAMA5):c.3066C>T (p.Leu1022=) rs139992490 0.00104
NM_005560.6(LAMA5):c.2321C>T (p.Thr774Ile) rs145721906 0.00098
NM_005560.6(LAMA5):c.3252C>T (p.His1084=) rs201249114 0.00088
NM_005560.6(LAMA5):c.1134C>T (p.Arg378=) rs142876888 0.00078
NM_005560.6(LAMA5):c.5724C>T (p.Ala1908=) rs142712051 0.00075
NM_005560.6(LAMA5):c.10282-4C>T rs200479494 0.00069
NM_005560.6(LAMA5):c.2109G>A (p.Thr703=) rs143941434 0.00068
NM_005560.6(LAMA5):c.5772C>T (p.Phe1924=) rs146304356 0.00068
NM_005560.6(LAMA5):c.1132C>T (p.Arg378Cys) rs41284992 0.00065
NM_005560.6(LAMA5):c.4179C>G (p.Pro1393=) rs117065914 0.00062
NM_005560.6(LAMA5):c.6476G>C (p.Gly2159Ala) rs139412622 0.00062
NM_005560.6(LAMA5):c.2919G>A (p.Thr973=) rs147701856 0.00058
NM_005560.6(LAMA5):c.9183C>T (p.Asp3061=) rs145862467 0.00053
NM_005560.6(LAMA5):c.4607A>G (p.Gln1536Arg) rs147007704 0.00050
NM_005560.6(LAMA5):c.9726G>A (p.Pro3242=) rs374794377 0.00043
NM_005560.6(LAMA5):c.10322C>T (p.Thr3441Met) rs200093098 0.00040
NM_005560.6(LAMA5):c.9493C>T (p.Arg3165Trp) rs143386487 0.00039
NM_005560.6(LAMA5):c.8976C>T (p.Ala2992=) rs183227892 0.00031
NM_005560.6(LAMA5):c.6368G>A (p.Arg2123His) rs374836875 0.00025
NM_005560.6(LAMA5):c.7652C>T (p.Ala2551Val) rs556545870 0.00023
NM_005560.6(LAMA5):c.9696C>T (p.Pro3232=) rs577468888 0.00013
NM_005560.6(LAMA5):c.2424C>T (p.Cys808=) rs202180524 0.00011
NM_005560.6(LAMA5):c.3606C>G (p.Pro1202=) rs571817029 0.00010
NM_005560.6(LAMA5):c.759C>T (p.Phe253=) rs532710301 0.00010
NM_005560.6(LAMA5):c.8768C>T (p.Thr2923Met) rs560237038 0.00010
NM_005560.6(LAMA5):c.3728C>T (p.Pro1243Leu) rs756101090 0.00009
NM_005560.6(LAMA5):c.6740C>T (p.Ala2247Val) rs201066079 0.00009
NM_005560.6(LAMA5):c.8121C>T (p.Asn2707=) rs200998631 0.00009
NM_005560.6(LAMA5):c.10744C>T (p.Arg3582Trp) rs375718055 0.00008
NM_005560.6(LAMA5):c.6567C>T (p.His2189=) rs199690960 0.00008
NM_005560.6(LAMA5):c.10688A>G (p.Gln3563Arg) rs533642424 0.00007
NM_005560.6(LAMA5):c.3045C>T (p.Ser1015=) rs376930247 0.00007
NM_005560.6(LAMA5):c.5721C>T (p.Ser1907=) rs780626116 0.00007
NM_005560.6(LAMA5):c.6819C>A (p.Gly2273=) rs566795195 0.00006
NM_005560.6(LAMA5):c.2659C>T (p.His887Tyr) rs777193671 0.00005
NM_005560.6(LAMA5):c.7416G>A (p.Met2472Ile) rs138561117 0.00005
NM_005560.6(LAMA5):c.8484C>T (p.Phe2828=) rs774183967 0.00005
NM_005560.6(LAMA5):c.9065C>T (p.Ser3022Leu) rs546335527 0.00004
NM_005560.6(LAMA5):c.10959C>T (p.Ala3653=) rs760797947 0.00003
NM_005560.6(LAMA5):c.11053G>A (p.Gly3685Arg) rs138468519
NM_005560.6(LAMA5):c.5712C>T (p.Asp1904=) rs139559822
NM_005560.6(LAMA5):c.6207G>A (p.Pro2069=) rs374550353
NM_005560.6(LAMA5):c.6347-8del rs778709010
NM_005560.6(LAMA5):c.7114G>A (p.Asp2372Asn) rs111653839
NM_005560.6(LAMA5):c.7211G>A (p.Arg2404His) rs144740011
NM_005560.6(LAMA5):c.956+6G>T rs186054581

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