ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1995C>T (p.Asp665=)

gnomAD frequency: 0.00001  dbSNP: rs368889011
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001397458 SCV001599205 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-10-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438762 SCV004165115 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing FLNA: BP4, BP7

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.