ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.462-1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Department, Charles Nicolle Hospital Tunis RCV003885436 SCV004697813 likely pathogenic Nephropathic cystinosis 2024-02-27 no assertion criteria provided clinical testing

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