ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.1029C>A (p.Ile343=)

dbSNP: rs147428183
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002553094 SCV001206965 likely benign Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2023-04-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276662 SCV001463156 uncertain significance Cystinosis 2020-09-16 no assertion criteria provided clinical testing

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