ClinVar Miner

Submissions for variant NM_016529.6(ATP8A2):c.1683C>T (p.Phe561=)

gnomAD frequency: 0.68336  dbSNP: rs6491066
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 RCV001518869 SCV001727643 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554199 SCV001775419 benign Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001518869 SCV005233888 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116458 SCV000150385 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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.