ClinVar Miner

Submissions for variant NM_014822.4(SEC24D):c.578C>T (p.Pro193Leu)

gnomAD frequency: 0.00569  dbSNP: rs6844109
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
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 RCV000424755 SCV000511566 likely benign not provided 2017-01-23 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000424755 SCV001028614 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000424755 SCV001940952 benign not provided 2020-02-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000424755 SCV005256108 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001729576 SCV001977754 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000424755 SCV001979844 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.