ClinVar Miner

Submissions for variant NM_024989.4(PGAP1):c.1862-3C>T

gnomAD frequency: 0.04584  dbSNP: rs73988069
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
GeneDx RCV000832321 SCV000974076 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001519135 SCV001727947 benign Intellectual disability, autosomal recessive 42 2024-01-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849128 SCV002105448 benign Hereditary spastic paraplegia 2021-10-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000832321 SCV005237921 benign not provided criteria provided, single submitter not provided

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.