ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.462-27_462-3del

dbSNP: rs1555563374
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000613111 SCV000799033 uncertain significance Nephropathic cystinosis 2018-04-03 criteria provided, single submitter clinical testing
Institute of Human Genetics, Cologne University RCV000613111 SCV000693705 uncertain significance Nephropathic cystinosis no assertion criteria provided clinical testing

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