ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.296+1G>A

dbSNP: rs386834260
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000014001 SCV000034248 pathogenic Leber congenital amaurosis 12 2006-12-01 no assertion criteria provided literature only
GeneReviews RCV000014001 SCV000087070 not provided Leber congenital amaurosis 12 no assertion provided literature only

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