ClinVar Miner

Variants with conflicting interpretations studied for Progressive familial heart block

Coded as:
Minimum review status of the submission for Progressive familial heart block: Y axis collection method of the submission for Progressive familial heart block:
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
22 76 1 26 31 1 1 56

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
Progressive familial heart block pathogenic uncertain significance likely benign benign risk factor
uncertain significance 0 1 20 20 0
likely benign 1 1 0 26 1

Condition to condition summary #

Total conditions: 11
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 0 0 26 26 0 0 51
Cardiovascular phenotype 0 3 0 20 13 0 0 33
Arrhythmia 0 0 0 12 12 0 0 24
Brugada syndrome 0 82 0 7 17 0 0 24
not provided 0 6 0 8 9 0 0 17
Progressive familial heart block type 1B 0 3 0 8 3 0 0 11
Cardiac arrhythmia 0 0 1 1 0 0 0 2
Cardiomyopathy 0 0 0 0 1 0 0 1
Long QT syndrome 3 0 0 0 1 0 0 0 1
Long qt syndrome 3, acquired, susceptibility to 0 0 0 0 0 1 0 1
SUDDEN INFANT DEATH SYNDROME 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 56
Download table as spreadsheet
HGVS dbSNP
NM_000335.4(SCN5A):c.2436+12G>A rs41312419
NM_000335.4(SCN5A):c.4845C>T (p.Phe1615=) rs41315495
NM_000335.4(SCN5A):c.5841C>T (p.Ile1947=) rs13324293
NM_017636.3(TRPM4):c.-12G>A rs3760663
NM_017636.3(TRPM4):c.1041G>T (p.Leu347=) rs61732831
NM_017636.3(TRPM4):c.1242T>C (p.Phe414=) rs200633475
NM_017636.3(TRPM4):c.1368C>G (p.Thr456=) rs56118173
NM_017636.3(TRPM4):c.2085C>T (p.Leu695=) rs781191851
NM_017636.3(TRPM4):c.2133-9C>G rs530013543
NM_017636.3(TRPM4):c.2210+11C>G rs1175796
NM_017636.3(TRPM4):c.2380C>T (p.Leu794=) rs3745301
NM_017636.3(TRPM4):c.267+14C>G rs113040724
NM_017636.3(TRPM4):c.2674C>T (p.Arg892Cys) rs147854826
NM_017636.3(TRPM4):c.2779-5C>T rs374639233
NM_017636.3(TRPM4):c.2934T>C (p.Ile978=) rs35516880
NM_017636.3(TRPM4):c.2982G>A (p.Ser994=) rs1175810
NM_017636.3(TRPM4):c.3024G>A (p.Ala1008=) rs35145363
NM_017636.3(TRPM4):c.3082C>T (p.Leu1028=) rs79286201
NM_017636.3(TRPM4):c.322C>T (p.Arg108Cys) rs115335683
NM_017636.3(TRPM4):c.375G>A (p.Ser125=) rs34333830
NM_017636.3(TRPM4):c.448+6C>T rs78051297
NM_017636.3(TRPM4):c.449-10G>A rs78444754
NM_017636.3(TRPM4):c.783G>A (p.Lys261=) rs111930830
NM_017636.3(TRPM4):c.92+12G>A rs377431946
NM_017636.3(TRPM4):c.988G>A (p.Glu330Lys) rs145771389
NM_198056.2(SCN5A):c.100C>T (p.Arg34Cys) rs6791924
NM_198056.2(SCN5A):c.1044C>T (p.Pro348=) rs370346797
NM_198056.2(SCN5A):c.1068T>C (p.Asp356=) rs41313703
NM_198056.2(SCN5A):c.1141-3C>A rs41312433
NM_198056.2(SCN5A):c.1302C>T (p.Phe434=) rs41313699
NM_198056.2(SCN5A):c.1569T>A (p.Arg523=) rs41313693
NM_198056.2(SCN5A):c.1673A>G (p.His558Arg) rs1805124
NM_198056.2(SCN5A):c.1681C>T (p.Leu561=) rs45522138
NM_198056.2(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_198056.2(SCN5A):c.1743G>A (p.Ser581=) rs41313687
NM_198056.2(SCN5A):c.1800G>A (p.Val600=) rs758101066
NM_198056.2(SCN5A):c.2151G>A (p.Pro717=) rs191840835
NM_198056.2(SCN5A):c.2181C>T (p.Ile727=) rs186942072
NM_198056.2(SCN5A):c.21T>A (p.Pro7=) rs587781157
NM_198056.2(SCN5A):c.2259C>T (p.Asn753=) rs878911306
NM_198056.2(SCN5A):c.2437-5C>A rs72549411
NM_198056.2(SCN5A):c.2788-6C>T rs41260344
NM_198056.2(SCN5A):c.3183A>G (p.Glu1061=) rs7430407
NM_198056.2(SCN5A):c.3228+6C>G rs368048551
NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr) rs7626962
NM_198056.2(SCN5A):c.3363G>A (p.Ala1121=) rs9858585
NM_198056.2(SCN5A):c.3391-7T>C rs41310769
NM_198056.2(SCN5A):c.3873G>A (p.Leu1291=) rs41313033
NM_198056.2(SCN5A):c.4437+13C>T rs148598985
NM_198056.2(SCN5A):c.4824C>T (p.Leu1608=) rs45437099
NM_198056.2(SCN5A):c.5454C>T (p.Ala1818=) rs370114378
NM_198056.2(SCN5A):c.5457T>C (p.Asp1819=) rs1805126
NM_198056.2(SCN5A):c.5607C>T (p.Asp1869=) rs560476223
NM_198056.2(SCN5A):c.6003C>T (p.Leu2001=) rs538707712
NM_198056.2(SCN5A):c.687T>C (p.Thr229=) rs770390440
NM_198056.2(SCN5A):c.87A>G (p.Ala29=) rs6599230

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