ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.141-4A>C

gnomAD frequency: 0.00002  dbSNP: rs1437667230
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002528839 SCV000751436 likely benign Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2024-05-13 criteria provided, single submitter clinical testing

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