ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=)

gnomAD frequency: 0.00037  dbSNP: rs375251871
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
Eurofins Ntd Llc (ga) RCV000597933 SCV000703096 uncertain significance not provided 2016-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088158 SCV001013043 likely benign Facioscapulohumeral muscular dystrophy 2 2024-12-18 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000597933 SCV001145729 benign not provided 2018-10-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935598 SCV004757472 likely benign SMCHD1-related disorder 2019-02-21 no assertion criteria provided 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).

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.