ClinVar Miner

Submissions for variant GRCh37/hg19 1q23.3(chr1:161255241-161276497)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000415266 SCV000328780 pathogenic Charcot-Marie-Tooth disease type 4E no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in GFAP (NM_002055.4, c.215A>G) and MPZ (homozygous deletion of exons 4-6) in one individual with reported features that included global developmental delay, delayed speech, developmental regression, intellectual disability, Alexander disease with dystonia, leukodystrophy, nystagmus, seizure disorder, macrocephaly, osteoporosis, scoliosis/kyphosis, hip dysplasia and dislocation, eczema, chronic lung disease, and constipation.

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.