ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.*511G>A

gnomAD frequency: 0.00025  dbSNP: rs377102711
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000397405 SCV000365469 uncertain significance Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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