ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.17689G>T (p.Ala5897Ser)

dbSNP: rs749866224
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
Eurofins Ntd Llc (ga) RCV000591298 SCV000703349 uncertain significance not provided 2016-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532414 SCV003590252 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.17476G>T (p.A5826S) alteration is located in exon 93 (coding exon 92) of the SYNE1 gene. This alteration results from a G to T substitution at nucleotide position 17476, causing the alanine (A) at amino acid position 5826 to be replaced by a serine (S). 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.