ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.534C>T (p.Ile178=)

gnomAD frequency: 0.00058  dbSNP: rs113967200
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
Invitae RCV002540072 SCV001031472 benign Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274177 SCV001458015 uncertain significance Cystinosis 2020-02-13 no assertion criteria provided clinical testing

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