ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.141-103G>A

gnomAD frequency: 0.35912  dbSNP: rs222778
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001542817 SCV001761198 benign Nephropathic cystinosis 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542818 SCV001761199 benign Ocular cystinosis 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001713114 SCV001940080 benign not provided 2018-08-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001713114 SCV005252199 benign not provided criteria provided, single submitter not provided

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