ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.737-12_737-8del

gnomAD frequency: 0.00002  dbSNP: rs761074507
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996025 SCV001150455 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing FHL1: BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001492550 SCV001697164 likely benign X-linked myopathy with postural muscle atrophy 2023-09-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953407 SCV004770639 likely benign FHL1-related disorder 2022-03-02 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).
Clinical Genetics, Academic Medical Center RCV001700687 SCV001921402 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000996025 SCV001963078 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.