ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.462-10C>T

gnomAD frequency: 0.00001  dbSNP: rs765481486
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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 RCV002567954 SCV001706988 likely benign Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2023-11-24 criteria provided, single submitter clinical testing
OMIM RCV001836614 SCV000024876 pathogenic Juvenile nephropathic cystinosis 1999-12-01 no assertion criteria provided literature only

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