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Items: 9

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:48546486
GRCh38:
ChrX:48688097
WASSevere congenital neutropenia X-linked, Thrombocytopenia, X-linked, Wiskott-Aldrich syndrome,
not provided
Pathogenic
(Dec 22, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
ChrX:48542823
GRCh38:
ChrX:48684434
WASSevere congenital neutropenia X-linked, Thrombocytopenia, X-linked, Wiskott-Aldrich syndrome,
not specified
Benign/Likely benign
(Dec 20, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
ChrX:48547748
GRCh38:
ChrX:48689359
WASSevere congenital neutropenia X-linked, Thrombocytopenia, X-linked, Wiskott-Aldrich syndrome,
not specified, not provided
Benign/Likely benign
(Apr 6, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
ChrX:48544502
GRCh38:
ChrX:48686113
WASThrombocytopenia, X-linked, not specified, not provided
Conflicting interpretations of pathogenicity
(Feb 15, 2017)
criteria provided, conflicting interpretations
5.
WASThrombocytopenia, X-linked, Wiskott-Aldrich syndromePathogenic
(Sep 1, 2002)
no assertion criteria provided
6.
GRCh37:
ChrX:48542673
GRCh38:
ChrX:48684284
WASThrombocytopenia, X-linkedPathogenic
(Jan 1, 2001)
no assertion criteria provided
7.
WASThrombocytopenia, X-linkedPathogenic
(Apr 1, 1995)
no assertion criteria provided
8.
GRCh37:
ChrX:48545317
GRCh38:
ChrX:48686928
WASThrombocytopenia, X-linkedPathogenic
(Apr 1, 1995)
no assertion criteria provided
9.
GRCh37:
ChrX:48542706
GRCh38:
ChrX:48684317
WASThrombocytopenia, X-linkedPathogenic
(Apr 1, 1995)
no assertion criteria provided
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