ClinVar Miner

Submissions for variant NM_001367479.1(DNAH14):c.7751C>G (p.Ser2584Cys)

dbSNP: rs569630401
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
New York Genome Center RCV002275564 SCV002564169 uncertain significance DNAH14-Associated Neurodevelopmental Disorder 2021-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004612171 SCV005109702 uncertain significance not specified 2024-06-04 criteria provided, single submitter clinical testing The c.7733C>G (p.S2578C) alteration is located in exon 51 (coding exon 50) of the DNAH14 gene. This alteration results from a C to G substitution at nucleotide position 7733, causing the serine (S) at amino acid position 2578 to be replaced by a cysteine (C). 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.