ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.621C>T (p.Phe207=)

gnomAD frequency: 0.00003  dbSNP: rs749428707
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002549584 SCV001595334 likely benign Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2024-05-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274179 SCV001458017 uncertain significance Cystinosis 2020-01-17 no assertion criteria provided clinical testing

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