ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.-23AG[1]

dbSNP: rs550436044
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000391692 SCV000402201 uncertain significance Nephropathic cystinosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000300496 SCV000402202 uncertain significance Cystinosis 2016-06-14 criteria provided, single submitter clinical testing

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