ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.425_427del (p.Phe142del)

dbSNP: rs1178364162
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667017 SCV000791404 uncertain significance Nephropathic cystinosis 2017-05-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485534 SCV002788120 uncertain significance Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2022-04-20 criteria provided, single submitter clinical testing

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