ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.124G>A (p.Val42Ile) (rs35086888)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000276289 SCV000402213 likely benign Nephropathic cystinosis 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000333816 SCV000402214 likely benign Ocular cystinosis 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000440461 SCV000511221 benign not provided 2016-10-11 criteria provided, single submitter clinical testing
Invitae RCV001079715 SCV000751434 benign Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000276289 SCV001140213 likely benign Nephropathic cystinosis 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000004700 SCV000024875 pathogenic Cystinosis, atypical nephropathic 1999-12-01 no assertion criteria provided literature only

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