ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.*435del

dbSNP: rs886054551
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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 RCV000358407 SCV000413982 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000400415 SCV000413983 uncertain significance Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304096 SCV000413984 uncertain significance Cone-Rod Dystrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694438 SCV005194695 uncertain significance not provided criteria provided, single submitter not provided

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