ClinVar Miner

Submissions for variant NM_032977.4(CASP10):c.1228G>A (p.Val410Ile)

gnomAD frequency: 0.04350  dbSNP: rs13010627
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
Illumina Laboratory Services, Illumina RCV000279231 SCV000426106 benign Autoimmune lymphoproliferative syndrome type 2A 2018-03-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000279231 SCV000644012 benign Autoimmune lymphoproliferative syndrome type 2A 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001572966 SCV001866810 benign not provided 2019-04-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16251207, 10755819, 10412980, 19423537, 20978178, 20981092, 16446975, 31309545, 11973654)
Breakthrough Genomics, Breakthrough Genomics RCV001572966 SCV005238009 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572966 SCV001798137 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699181 SCV001926668 benign not specified no assertion criteria provided clinical testing
GeneReviews RCV000279231 SCV002032177 not provided Autoimmune lymphoproliferative syndrome type 2A no assertion provided literature only

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.