ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.*308AAG[2]

dbSNP: rs398059782
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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 RCV000325778 SCV000413970 benign Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385027 SCV000413971 benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000290830 SCV000413972 benign Cone-Rod Dystrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001672556 SCV001884802 benign not provided 2021-06-18 criteria provided, single submitter clinical testing

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