ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.561+4C>T

gnomAD frequency: 0.00040  dbSNP: rs111256750
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243413 SCV000305960 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726278 SCV000343387 uncertain significance not provided 2016-06-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000332820 SCV000402231 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV000373428 SCV000402232 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV002518595 SCV001120256 likely benign Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2024-01-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274178 SCV001458016 uncertain significance Cystinosis 2020-04-21 no assertion criteria provided clinical testing

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