ClinVar Miner

Submissions for variant NM_001082971.2(DDC):c.629C>T (p.Pro210Leu)

gnomAD frequency: 0.01372  dbSNP: rs6262
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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224842 SCV000280958 benign not provided 2015-06-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000294389 SCV000469598 benign Deficiency of aromatic-L-amino-acid decarboxylase 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Eurofins Ntd Llc (ga) RCV000596249 SCV000703287 benign not specified 2016-12-01 criteria provided, single submitter clinical testing
Invitae RCV000294389 SCV000760402 benign Deficiency of aromatic-L-amino-acid decarboxylase 2024-02-01 criteria provided, single submitter clinical testing
Mendelics RCV000294389 SCV001137353 likely benign Deficiency of aromatic-L-amino-acid decarboxylase 2019-05-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000596249 SCV002050911 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000294389 SCV002804344 likely benign Deficiency of aromatic-L-amino-acid decarboxylase 2021-07-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000224842 SCV004162124 benign not provided 2023-03-01 criteria provided, single submitter clinical testing DDC: BP4, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000224842 SCV001799876 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000224842 SCV001922243 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.