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Items: 4

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:39993470
GRCh38:
Chr19:39502830
DLL3Spondylocostal dysostosis 1, autosomal recessive, Jarcho-Levin syndrome, not specified,
Syndactyly
GO-ESP:0.05836(A)
GMAF:0.03970(A)
GO-ESP:0.11539(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr19:39993560
GRCh38:
Chr19:39502920
DLL3Spondylocostal dysostosis 1, autosomal recessive, Jarcho-Levin syndrome, not specified,
Syndactyly
GMAF:0.26200(G)
GO-ESP:0.33996(G)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr19:39994711
GRCh38:
Chr19:39504071
DLL3Spondylocostal dysostosis 1, autosomal recessive, Jarcho-Levin syndrome, not specified,
Syndactyly
GO-ESP:0.59011(C)
GMAF:0.37000(T)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr19:39998132
GRCh38:
Chr19:39507492
DLL3Spondylocostal dysostosis 1, autosomal recessiveBenign
(Jan 17, 2013)
no assertion criteria provided
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