ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.938G>A (p.Ser313Asn)

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 RCV002667541 SCV002985820 benign Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 2022-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004066804 SCV005002078 uncertain significance Inborn genetic diseases 2023-12-22 criteria provided, single submitter clinical testing The c.938G>A (p.S313N) alteration is located in exon 7 (coding exon 6) of the PDGFRB gene. This alteration results from a G to A substitution at nucleotide position 938, causing the serine (S) at amino acid position 313 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.