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

gnomAD frequency: 0.00259  dbSNP: rs189632527

Total submissions: 9

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.
Labcorp Genetics (formerly Invitae), Labcorp	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
Breakthrough Genomics, Breakthrough Genomics	RCV000675694	SCV005217950	likely benign	not provided		criteria provided, single submitter	not provided
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
PreventionGenetics, part of Exact Sciences	RCV003930150	SCV004743207	likely benign	CTNS-related disorder	2022-03-18	no assertion criteria provided	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).