ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.251del (p.Asn84fs)

dbSNP: rs1057516296
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409604 SCV000485431 likely pathogenic Nephropathic cystinosis 2015-12-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000409604 SCV004212961 likely pathogenic Nephropathic cystinosis 2023-06-27 criteria provided, single submitter clinical testing

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