ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.462-7C>A

gnomAD frequency: 0.00259  dbSNP: rs189632527
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000313950 SCV000342309 benign not specified 2016-05-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000309746 SCV000402225 likely benign Ocular cystinosis 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV000362228 SCV000402226 likely benign Nephropathic cystinosis 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV002518027 SCV001119986 benign Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000675694 SCV004184636 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing CTNS: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003930150 SCV004743207 likely benign CTNS-related disorder 2022-03-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Mayo Clinic Laboratories, Mayo Clinic RCV000675694 SCV000801404 likely benign not provided 2018-01-24 no assertion criteria provided clinical testing
Natera, Inc. RCV001271649 SCV001452951 likely benign Cystinosis 2020-04-21 no assertion criteria provided clinical testing

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