ClinVar Miner

Submissions for variant NM_020777.3(SORCS2):c.2098G>A (p.Glu700Lys)

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
Ambry Genetics RCV004086246 SCV003548273 uncertain significance not specified 2021-10-12 criteria provided, single submitter clinical testing The c.2098G>A (p.E700K) alteration is located in exon 16 (coding exon 16) of the SORCS2 gene. This alteration results from a G to A substitution at nucleotide position 2098, causing the glutamic acid (E) at amino acid position 700 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003435894 SCV004147665 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing SORCS2: BP4

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.