ClinVar Miner

Submissions for variant NM_006383.4(CIB2):c.192G>C (p.Glu64Asp)

dbSNP: rs145415848
Minimum review status: Collection method:
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000032890 SCV000056661 pathogenic Usher syndrome type 1J 2012-11-01 no assertion criteria provided literature only
GeneReviews RCV000032890 SCV000086946 not provided Usher syndrome type 1J no assertion provided literature only
GeneReviews RCV000223233 SCV000268765 not provided Usher syndrome type 1 no assertion provided literature only

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