ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.5593C>T (p.Arg1865Trp)

gnomAD frequency: 0.00006  dbSNP: rs755595060
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592353 SCV000703048 uncertain significance not provided 2016-10-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000592353 SCV001145433 uncertain significance not provided 2019-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000592353 SCV002301936 likely benign not provided 2022-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532405 SCV003615797 uncertain significance Inborn genetic diseases 2024-11-13 criteria provided, single submitter clinical testing The c.5593C>T (p.R1865W) alteration is located in exon 27 (coding exon 26) of the SPTBN2 gene. This alteration results from a C to T substitution at nucleotide position 5593, causing the arginine (R) at amino acid position 1865 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000592353 SCV005412380 uncertain significance not provided 2024-05-15 criteria provided, single submitter clinical testing PM2

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.