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Items: 10

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr8:133141636
GRCh38:
Chr8:132129389
KCNQ3not specifiedUncertain significance
(Apr 16, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr8:133142133
GRCh38:
Chr8:132129886
KCNQ3not specifiedUncertain significance
(Aug 13, 2014)
criteria provided, single submitter
3.
GRCh37:
Chr8:133146616
GRCh38:
Chr8:132134369
KCNQ3Benign familial neonatal seizures 2, Benign familial neonatal seizures, not specified,
Benign familial neonatal seizures, Benign Neonatal Epilepsy
Conflicting interpretations of pathogenicity
(Mar 17, 2017)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr8:133152340
GRCh38:
Chr8:132140093
KCNQ3Benign familial neonatal seizures, not specified, Benign familial neonatal seizures,
Benign Neonatal Epilepsy
Benign/Likely benign
(Nov 1, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr8:133175736
GRCh38:
Chr8:132163489
KCNQ3Benign familial neonatal seizures 2, Benign familial neonatal seizures, not specified,
Benign familial neonatal seizures, Benign Neonatal Epilepsy
Benign/Likely benign
(Jan 23, 2017)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr8:133184914
GRCh38:
Chr8:132172667
KCNQ3Benign familial neonatal seizures, not specified, Benign familial neonatal seizures,
Benign Neonatal Epilepsy
Benign/Likely benign
(Jan 23, 2017)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr8:133184926
GRCh38:
Chr8:132172679
KCNQ3Benign familial neonatal seizures, not specified, Benign familial neonatal seizures
Benign/Likely benign
(Sep 21, 2016)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr8:133186582
GRCh38:
Chr8:132174335
KCNQ3Benign familial neonatal seizures, not specified, Benign familial neonatal seizures,
Benign Neonatal Epilepsy
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr8:133192449
GRCh38:
Chr8:132180202
KCNQ3Benign familial neonatal seizures, not specified, Benign familial neonatal seizures,
Benign Neonatal Epilepsy
Benign/Likely benign
(Jan 23, 2017)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr8:133192521
GRCh38:
Chr8:132180274
KCNQ3Benign familial neonatal seizures, not specified, Benign familial neonatal seizures,
Benign Neonatal Epilepsy
Benign/Likely benign
(Jan 23, 2017)
criteria provided, multiple submitters, no conflicts
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