ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.-87C>T

gnomAD frequency: 0.00309  dbSNP: rs200353554
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000187062 SCV000224521 likely benign not specified 2017-06-29 criteria provided, single submitter clinical testing
GeneDx RCV000187062 SCV000240637 likely benign not specified 2017-11-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000429471 SCV000511529 likely benign not provided 2016-12-05 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000989147 SCV000560158 benign Neuronal ceroid lipofuscinosis 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000429471 SCV000612844 benign not provided 2018-11-05 criteria provided, single submitter clinical testing
Counsyl RCV000671703 SCV000796704 likely benign Neuronal ceroid lipofuscinosis 5 2017-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313021 SCV000848986 likely benign Inborn genetic diseases 2018-10-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000429471 SCV000892070 benign not provided 2023-02-01 criteria provided, single submitter clinical testing CLN5: BS1, BS2
Mendelics RCV000989147 SCV001139363 likely benign Neuronal ceroid lipofuscinosis 2019-05-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000671703 SCV001460312 benign Neuronal ceroid lipofuscinosis 5 2020-04-16 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.