ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.428_430dup (p.Phe143_Thr144insIle)

dbSNP: rs1603271580
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000022828 SCV000044117 pathogenic X-linked scapuloperoneal muscular dystrophy 2011-10-01 no assertion criteria provided literature only
OMIM RCV000012305 SCV000032539 pathogenic X-linked myopathy with postural muscle atrophy 2011-10-01 no assertion criteria provided literature only

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.