ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.73A>T (p.Ser25Cys)

dbSNP: rs777367316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670911 SCV000795826 uncertain significance Nephropathic cystinosis 2017-11-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000670911 SCV004212932 likely pathogenic Nephropathic cystinosis 2023-12-02 criteria provided, single submitter clinical testing

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