ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.660C>T (p.Ile220=)

gnomAD frequency: 0.00001  dbSNP: rs369227591
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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 RCV002559316 SCV001647440 likely benign Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2023-11-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706165 SCV005217952 likely benign not provided criteria provided, single submitter not provided

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