ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.592del (p.Gly197_Val198insTer)

dbSNP: rs1555563568
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666948 SCV000791325 likely pathogenic Nephropathic cystinosis 2017-05-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV000666948 SCV004212958 likely pathogenic Nephropathic cystinosis 2023-07-11 criteria provided, single submitter clinical testing

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