ClinVar Miner

Submissions for variant NM_198529.4(EFCAB5):c.42+1G>A

gnomAD frequency: 0.00559  dbSNP: rs201197242
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000709904 SCV004142515 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing EFCAB5: BS2
GenomeConnect, ClinGen RCV000709904 SCV000840245 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.