ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.315-3T>C

gnomAD frequency: 0.00436  dbSNP: rs189365250
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000638577 SCV000760107 benign 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000638577 SCV001265885 likely benign 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 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.
GeneDx RCV001529210 SCV001842775 benign not provided 2021-05-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001529210 SCV002063010 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing PTS: BP4, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529210 SCV001742290 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001529210 SCV001799263 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529210 SCV001969336 likely benign not provided 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.