ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.685-25GTT[6]

dbSNP: rs142647500
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) RCV000216003 SCV000230151 benign not specified 2014-10-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216003 SCV000269176 benign not specified 2015-06-25 criteria provided, single submitter clinical testing c.685-13_685-11dup in intron 3 of ISPD: This variant is not expected to have cli nical significance because it has been identified in 17.2% (896/5208) of East As ian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs142647500).
PreventionGenetics, part of Exact Sciences RCV000216003 SCV000306595 benign not specified 2016-02-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000333361 SCV000468013 likely benign Congenital Muscular Dystrophy, alpha-dystroglycan related 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000992184 SCV000730095 benign not provided 2018-06-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000992184 SCV001144252 benign not provided 2019-06-18 criteria provided, single submitter clinical testing
Invitae RCV001513944 SCV001721653 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2024-02-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000216003 SCV001925965 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000216003 SCV001968470 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000992184 SCV002036181 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.