ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.809_811del (p.Ser270del)

dbSNP: rs786204632
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169407 SCV000220809 likely pathogenic Nephropathic cystinosis 2014-10-16 criteria provided, single submitter literature only
Baylor Genetics RCV000169407 SCV004215230 pathogenic Nephropathic cystinosis 2022-02-06 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849327 SCV002107070 likely pathogenic Nephrotic syndrome 2017-11-10 no assertion criteria provided literature only

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