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Items: 13

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:66453459
GRCh38:
Chr7:66988472
SBDSShwachman syndromePathogenic
(Jul 17, 2008)
no assertion criteria provided
2.
GRCh37:
Chr7:66453460
GRCh38:
Chr7:66988473
SBDSShwachman syndrome, not specifiedBenign
(Mar 29, 2017)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr7:66453476
GRCh38:
Chr7:66988489
SBDSShwachman syndrome, not specifiedBenign/Likely benign
(May 31, 2018)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr7:66456123
GRCh38:
Chr7:66991136
SBDSShwachman syndromePathogenic
(Jul 17, 2008)
no assertion criteria provided
5.
GRCh37:
Chr7:66456243
GRCh38:
Chr7:66991256
SBDSShwachman syndromeUncertain significance
(Apr 16, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr7:66458286
GRCh38:
Chr7:66993299
SBDSShwachman syndromePathogenic
(Jul 17, 2008)
no assertion criteria provided
7.
GRCh37:
Chr7:66458363-66458366
GRCh38:
Chr7:66993376-66993379
SBDSShwachman syndromePathogenic
(Jul 17, 2008)
no assertion criteria provided
8.
GRCh37:
Chr7:66459197
GRCh38:
Chr7:66994210
SBDSShwachman syndrome, Aplastic anemia, susceptibility to, not specified,
Short stature, Deeply set eye, not provided,
Agenesis of permanent teeth, Microcephaly, Splenomegaly,
Inborn genetic diseases
Pathogenic
(Feb 26, 2018)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr7:66459198
GRCh38:
Chr7:66994211
SBDSShwachman syndrome, not providedPathogenic
(Jul 14, 2016)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr7:66459256
GRCh38:
Chr7:66994269
SBDSShwachman syndrome, not specifiedBenign
(Dec 5, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr7:66459273-66459274
GRCh38:
Chr7:66994286-66994287
SBDSShwachman syndrome, not provided, Inborn genetic diseases
Pathogenic
(Oct 23, 2017)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr7:66459316
GRCh38:
Chr7:66994329
SBDSShwachman syndrome, not specifiedBenign
(Jul 28, 2017)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr7:66460285
GRCh38:
Chr7:66995298
SBDSShwachman syndrome, not providedPathogenic
(Jun 7, 2016)
criteria provided, single submitter
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