ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met)

gnomAD frequency: 0.00091  dbSNP: rs200164926
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000443342 SCV000511748 likely benign not provided 2017-01-02 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000614054 SCV000730874 benign not specified 2017-11-30 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.
Invitae RCV001079896 SCV001121773 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000443342 SCV001150504 likely benign not provided 2019-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000614054 SCV002066481 likely benign not specified 2018-02-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003972567 SCV004791730 likely benign HCFC1-related condition 2019-04-29 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000443342 SCV001798848 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000443342 SCV001964689 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.