ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.1035C>T (p.Phe345=)

gnomAD frequency: 0.00004  dbSNP: rs149007536
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 RCV002545931 SCV001086885 likely benign Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2024-03-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005092873 SCV002813656 likely benign Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2021-12-20 criteria provided, single submitter clinical testing

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