ClinVar Miner

Submissions for variant NM_052867.4(NALCN):c.1135-10G>A

dbSNP: rs114020374
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000864614 SCV001005437 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000864614 SCV001893369 benign not provided 2019-09-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501234 SCV002804517 likely benign Hypotonia, infantile, with psychomotor retardation and characteristic facies 1; Congenital contractures of the limbs and face, hypotonia, and developmental delay 2022-02-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000864614 SCV003800259 benign not provided 2023-10-16 criteria provided, single submitter 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.