ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7233C>T (p.Ala2411=)

gnomAD frequency: 0.00001  dbSNP: rs771141688
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825137 SCV000966397 likely benign not specified 2018-04-12 criteria provided, single submitter clinical testing This variant is classified as likely benign because it does not alter an amino a cid residue, is not located within the splice consensus sequence, and splice pre diction algorithms an impact on splicing. It has been identified in 7/245622 tot al chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadin stitute.org; dbSNP rs771141688). ACMG/AMP Criteria applied: BP4; BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV002536039 SCV001020249 likely benign CHARGE syndrome 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372366 SCV002671414 likely benign Inborn genetic diseases 2018-07-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002501151 SCV002798049 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-02-04 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.