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Items: 2

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:21790040
GRCh38:
Chr14:21321881
RPGRIP1Cone-rod dystrophy 13, Leber congenital amaurosis, not specified,
not provided, Cone-Rod Dystrophy, Recessive
Conflicting interpretations of pathogenicity
(Oct 21, 2016)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr14:21794102
GRCh38:
Chr14:21325943
RPGRIP1Cone-rod dystrophy 13, not providedPathogenic
(May 2, 2013)
no assertion criteria provided
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