ClinVar Miner

Submissions for variant NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe) (rs145433186)

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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224861 SCV000280722 uncertain significance not provided 2016-01-27 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000224861 SCV000336881 uncertain significance not provided 2015-11-13 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000509333 SCV000895435 uncertain significance Multiple pterygium syndrome Escobar type; Lethal multiple pterygium syndrome 2018-10-31 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509333 SCV000607091 not provided Multiple pterygium syndrome Escobar type; Lethal multiple pterygium syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.