Submissions for variant NM_004937.3(CTNS):c.108C>T (p.Asn36=)

gnomAD frequency: 0.00664  dbSNP: rs117404824

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000365231	SCV000402209	likely benign	Nephropathic cystinosis	2018-01-13	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	RCV000272909	SCV000402210	likely benign	Ocular cystinosis	2018-01-13	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	RCV002522935	SCV000751435	benign	Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases	2024-01-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001264501	SCV001442686	benign	not specified	2020-10-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000675692	SCV004145605	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	CTNS: BP4, BP7, BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000675692	SCV000801402	benign	not provided	2017-05-16	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001276654	SCV001463144	benign	Cystinosis	2020-09-16	no assertion criteria provided	clinical testing