ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.225+1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004576124 SCV005051734 likely pathogenic Nephropathic cystinosis 2024-02-01 criteria provided, single submitter curation

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