ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.684C>T (p.Arg228=)

gnomAD frequency: 0.00009  dbSNP: rs762346133
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002540909 SCV001061923 likely benign Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2025-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005092729 SCV002811237 likely benign Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2021-08-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832073 SCV002093235 likely benign Cystinosis 2020-09-02 no assertion criteria provided clinical testing

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