ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.612C>T (p.Asn204=)

gnomAD frequency: 0.00001  dbSNP: rs200170842
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180610 SCV000233084 uncertain significance not provided 2015-03-30 criteria provided, single submitter clinical testing
Invitae RCV002516824 SCV001063706 likely benign Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2023-12-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001804909 SCV002050959 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing

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