ClinVar Miner

Submissions for variant NM_000554.5(CRX):c.-116T>C

gnomAD frequency: 0.08435  dbSNP: rs10418215
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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 RCV000265804 SCV000413906 benign Cone-Rod Dystrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000327978 SCV000413907 benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000384844 SCV000413908 benign Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717271 SCV005311052 benign not provided criteria provided, single submitter not provided

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