ClinVar Miner

Variants with conflicting interpretations studied for Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; not provided; Hypertrophic cardiomyopathy 26

Coded as:
Minimum review status of the submission for Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; not provided; Hypertrophic cardiomyopathy 26: Collection method of the submission for Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; not provided; Hypertrophic cardiomyopathy 26:
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
4805 81 0 13 65 0 1 79

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
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; not provided; Hypertrophic cardiomyopathy 26 likely pathogenic uncertain significance likely benign
pathogenic 3 0 0
uncertain significance 1 0 0
likely benign 0 61 0
benign 0 4 10

Condition to condition summary #

Total conditions: 2
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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
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 0 76 0 13 64 0 1 78
Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_001458.5(FLNC):c.561C>T (p.Asp187=) rs149474376 0.00177
NM_001458.5(FLNC):c.2390-9T>C rs368068407 0.00173
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=) rs201069454 0.00127
NM_001458.5(FLNC):c.597C>T (p.Ala199=) rs143942649 0.00125
NM_001458.5(FLNC):c.4581-5T>A rs368660628 0.00111
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=) rs376992044 0.00111
NM_001458.5(FLNC):c.3000T>C (p.Asp1000=) rs184454068 0.00110
NM_001458.5(FLNC):c.7185C>T (p.Ser2395=) rs199880128 0.00085
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg) rs201635205 0.00061
NM_001458.5(FLNC):c.5070C>T (p.Leu1690=) rs202027738 0.00031
NM_001458.5(FLNC):c.5311C>G (p.Pro1771Ala) rs200001272 0.00027
NM_001458.5(FLNC):c.1757T>C (p.Val586Ala) rs374132023 0.00025
NM_001458.5(FLNC):c.5889G>A (p.Thr1963=) rs374743518 0.00023
NM_001458.5(FLNC):c.2635C>T (p.Arg879Cys) rs374983276 0.00021
NM_001458.5(FLNC):c.5221G>A (p.Glu1741Lys) rs200792813 0.00020
NM_001458.5(FLNC):c.2296C>T (p.Arg766Trp) rs200215340 0.00019
NM_001458.5(FLNC):c.3938G>A (p.Arg1313Gln) rs199804244 0.00019
NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys) rs200206944 0.00016
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp) rs763039506 0.00016
NM_001458.5(FLNC):c.1259G>A (p.Arg420Gln) rs371410741 0.00015
NM_001458.5(FLNC):c.7108G>A (p.Gly2370Ser) rs201917318 0.00015
NM_001458.5(FLNC):c.4367G>C (p.Gly1456Ala) rs775049569 0.00014
NM_001458.5(FLNC):c.5432G>A (p.Arg1811Gln) rs369759751 0.00014
NM_001458.5(FLNC):c.2297G>A (p.Arg766Gln) rs369935650 0.00013
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser) rs374124083 0.00013
NM_001458.5(FLNC):c.3853G>A (p.Gly1285Ser) rs200928780 0.00011
NM_001458.5(FLNC):c.5500C>T (p.His1834Tyr) rs377141822 0.00011
NM_001458.5(FLNC):c.1205C>T (p.Thr402Ile) rs374757755 0.00009
NM_001458.5(FLNC):c.1605C>T (p.Cys535=) rs199976790 0.00009
NM_001458.5(FLNC):c.5410A>T (p.Met1804Leu) rs201949844 0.00009
NM_001458.5(FLNC):c.643G>A (p.Val215Met) rs754309921 0.00009
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val) rs200516164 0.00009
NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu) rs745650222 0.00008
NM_001458.5(FLNC):c.1142G>A (p.Arg381His) rs776469396 0.00007
NM_001458.5(FLNC):c.3887C>T (p.Ser1296Leu) rs747587140 0.00006
NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met) rs140857707 0.00006
NM_001458.5(FLNC):c.7090C>T (p.Arg2364Cys) rs374973240 0.00006
NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr) rs200653747 0.00004
NM_001458.5(FLNC):c.2737G>A (p.Glu913Lys) rs774707336 0.00004
NM_001458.5(FLNC):c.3622G>A (p.Ala1208Thr) rs528279616 0.00004
NM_001458.5(FLNC):c.3722G>A (p.Arg1241His) rs370520806 0.00004
NM_001458.5(FLNC):c.7229G>A (p.Arg2410His) rs558239439 0.00004
NM_001458.5(FLNC):c.1261C>T (p.Arg421Trp) rs759075520 0.00003
NM_001458.5(FLNC):c.1471G>A (p.Val491Met) rs770264114 0.00003
NM_001458.5(FLNC):c.3022C>T (p.Arg1008Cys) rs757969015 0.00003
NM_001458.5(FLNC):c.3133C>A (p.His1045Asn) rs201863231 0.00003
NM_001458.5(FLNC):c.4911C>G (p.Ser1637Arg) rs1469272964 0.00003
NM_001458.5(FLNC):c.5377G>A (p.Val1793Met) rs587780337 0.00003
NM_001458.5(FLNC):c.5984G>A (p.Arg1995His) rs371508414 0.00003
NM_001458.5(FLNC):c.6799G>A (p.Val2267Ile) rs758080422 0.00003
NM_001458.5(FLNC):c.7310G>A (p.Arg2437Gln) rs201762568 0.00003
NM_001458.5(FLNC):c.7484G>A (p.Arg2495His) rs757219498 0.00003
NM_001458.5(FLNC):c.2311G>A (p.Gly771Ser) rs1031265089 0.00002
NM_001458.5(FLNC):c.4073C>G (p.Pro1358Arg) rs769586047 0.00002
NM_001458.5(FLNC):c.4699C>T (p.Arg1567Trp) rs369842920 0.00002
NM_001458.5(FLNC):c.4705G>A (p.Ala1569Thr) rs768737324 0.00002
NM_001458.5(FLNC):c.6923C>T (p.Pro2308Leu) rs369250297 0.00002
NM_001458.5(FLNC):c.7228C>T (p.Arg2410Cys) rs750686083 0.00002
NM_001458.5(FLNC):c.7423G>A (p.Val2475Ile) rs191224002 0.00002
NM_001458.5(FLNC):c.1766C>T (p.Ser589Leu) rs780098760 0.00001
NM_001458.5(FLNC):c.2023C>T (p.Pro675Ser) rs1227192105 0.00001
NM_001458.5(FLNC):c.2376C>T (p.Ser792=) rs754097557 0.00001
NM_001458.5(FLNC):c.2424C>T (p.Gly808=) rs764991202 0.00001
NM_001458.5(FLNC):c.4295C>T (p.Pro1432Leu) rs1427806742 0.00001
NM_001458.5(FLNC):c.470G>A (p.Arg157His) rs752919962 0.00001
NM_001458.5(FLNC):c.5272C>T (p.Arg1758Trp) rs369187211 0.00001
NM_001458.5(FLNC):c.5458G>A (p.Gly1820Ser) rs763930207 0.00001
NM_001458.5(FLNC):c.5935G>A (p.Ala1979Thr) rs766127245 0.00001
NM_001458.5(FLNC):c.6878G>A (p.Arg2293His) rs1034483511 0.00001
NM_001458.5(FLNC):c.7328G>A (p.Arg2443Gln) rs370293647 0.00001
NM_001458.5(FLNC):c.1000C>T (p.Arg334Cys) rs372497581
NM_001458.5(FLNC):c.2062G>A (p.Ala688Thr) rs774194364
NM_001458.5(FLNC):c.2084G>A (p.Arg695His) rs766592492
NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter) rs886037830
NM_001458.5(FLNC):c.3055G>T (p.Gly1019Cys) rs200864007
NM_001458.5(FLNC):c.3799C>T (p.Arg1267Trp) rs371483562
NM_001458.5(FLNC):c.4301G>A (p.Arg1434His) rs143623535
NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter) rs1563000044
NM_001458.5(FLNC):c.6494del (p.Phe2165fs)

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