ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.1029C>T (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
Labcorp Genetics (formerly Invitae), Labcorp RCV002555142 SCV001629280 likely benign Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2023-10-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826237 SCV002093241 likely benign Cystinosis 2021-06-04 no assertion criteria provided clinical testing

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