ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.519_520del (p.Tyr173_Ser174delinsTer)

dbSNP: rs745365232
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409104 SCV000486736 pathogenic Nephropathic cystinosis 2016-08-01 criteria provided, single submitter clinical testing
Molecular Biology Laboratory, Fundació Puigvert RCV000409104 SCV001425073 pathogenic Nephropathic cystinosis 2020-02-01 criteria provided, single submitter research

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