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Items: 4

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr4:1341973
GRCh38:
Chr4:1348185
UVSSAUV-sensitive syndrome 3Pathogenic
(May 1, 2012)
no assertion criteria provided
2.
UVSSAUV-sensitive syndrome 3Pathogenic
(May 1, 2012)
no assertion criteria provided
3.
GRCh37:
Chr4:1343580
GRCh38:
Chr4:1349792
UVSSAUV-sensitive syndrome 3Pathogenic
(May 1, 2012)
no assertion criteria provided
4.
GRCh37:
Chr10:50740782
GRCh38:
Chr10:49532736
ERCC6, ERCC6-PGBD3Cockayne syndrome B, UV-sensitive syndromePathogenic
(Oct 29, 2015)
criteria provided, single submitter
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