ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.461+10del

gnomAD frequency: 0.00077  dbSNP: rs377470989
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002548365 SCV001119982 likely benign Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271648 SCV001452950 likely benign Cystinosis 2020-04-19 no assertion criteria provided clinical testing

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