ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.*754_*756dup

dbSNP: rs60558029
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000265418 SCV000414012 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000320472 SCV000414013 uncertain significance Cone-Rod Dystrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000379694 SCV000414014 uncertain significance Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694441 SCV005194698 uncertain significance not provided criteria provided, single submitter not provided

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