ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.822C>T (p.Leu274=)

gnomAD frequency: 0.00001  dbSNP: rs150773117
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002542238 SCV001076208 benign Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002245747 SCV002806689 likely benign Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2021-12-04 criteria provided, single submitter clinical testing

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