ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.834G>A (p.Leu278=)

gnomAD frequency: 0.00094  dbSNP: rs139519275
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 RCV002540083 SCV001033170 benign Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274182 SCV001458020 likely benign Cystinosis 2019-12-31 no assertion criteria provided clinical testing

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