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Items: 14

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:107301115
GRCh38:
Chr7:107660670
SLC26A4, SLC26A4-AS1not specifiedGMAF:0.00020(T)Likely benign
(Aug 10, 2009)
criteria provided, single submitter
2.
GRCh37:
Chr7:107301201
GRCh38:
Chr7:107660756
SLC26A4, SLC26A4-AS1Enlarged vestibular aqueduct syndrome, Pendred's syndrome, not specified,
not provided, SLC26A4-Related Disorders
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr7:107301238
GRCh38:
Chr7:107660793
SLC26A4, SLC26A4-AS1not specifiedGMAF:0.08770(G)Likely benign
(Jan 20, 2012)
criteria provided, single submitter
4.
GRCh37:
Chr7:107301238
GRCh38:
Chr7:107660793
SLC26A4, SLC26A4-AS1Pendred's syndrome, not specified, Nonsyndromic Hearing Loss, Recessive
GMAF:0.08770(G)Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr7:107301305
GRCh38:
Chr7:107660860
SLC26A4, SLC26A4-AS1Enlarged vestibular aqueduct syndrome, Pendred's syndromeLikely pathogenic
(Jun 17, 2014)
criteria provided, single submitter
6.
GRCh37:
Chr7:107302082
GRCh38:
Chr7:107661637
SLC26A4, SLC26A4-AS1Enlarged vestibular aqueduct syndrome, Pendred's syndromeGO-ESP:0.00022(G)Pathogenic
(Mar 22, 2012)
criteria provided, single submitter
7.
GRCh37:
Chr7:107302088
GRCh38:
Chr7:107661643
SLC26A4, SLC26A4-AS1Enlarged vestibular aqueduct syndrome, Pendred's syndromeGO-ESP:0.00005(C)Pathogenic
(Feb 11, 2010)
criteria provided, single submitter
8.
GRCh37:
Chr7:107302101
GRCh38:
Chr7:107661656
SLC26A4, SLC26A4-AS1not specifiedGO-ESP:0.00468(A)
GMAF:0.00600(A)
GO-ESP:0.00350(A)
Benign
(Aug 24, 2012)
criteria provided, single submitter
9.
GRCh37:
Chr7:107302103
GRCh38:
Chr7:107661658
SLC26A4, SLC26A4-AS1Pendred's syndrome, not specifiedGO-ESP:0.00008(T)
GMAF:0.00800(T)
GO-ESP:0.00981(T)
Likely benign
(Oct 17, 2014)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr7:107302114
GRCh38:
Chr7:107661669
SLC26A4, SLC26A4-AS1not specifiedGMAF:0.00020(A)
GO-ESP:0.00042(A)
Uncertain significance
(Jan 29, 2013)
criteria provided, single submitter
11.
GRCh37:
Chr7:107302154
GRCh38:
Chr7:107661709
SLC26A4, SLC26A4-AS1Enlarged vestibular aqueduct syndrome, Pendred's syndromePathogenic/Likely pathogenic
(Sep 20, 2016)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr7:107302171
GRCh38:
Chr7:107661726
SLC26A4, SLC26A4-AS1Enlarged vestibular aqueduct syndrome, Pendred's syndromeGO-ESP:0.00005(T)Likely pathogenic
(Mar 1, 2008)
criteria provided, single submitter
13.
GRCh37:
Chr7:107302171
GRCh38:
Chr7:107661726
SLC26A4, SLC26A4-AS1Enlarged vestibular aqueduct syndrome, Pendred's syndromeGO-ESP:0.00005(C)Pathogenic/Likely pathogenic
(Sep 14, 2015)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr7:107302233
GRCh38:
Chr7:107661788
SLC26A4, SLC26A4-AS1not specifiedConflicting interpretations of pathogenicity
(Aug 3, 2016)
criteria provided, conflicting interpretations
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