ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.13747C>T (p.Arg4583Cys)

gnomAD frequency: 0.00087  dbSNP: rs144505769
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245518 SCV001418811 likely benign Primary ciliary dyskinesia 2023-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034830 SCV004075396 uncertain significance not specified 2023-07-06 criteria provided, single submitter clinical testing The c.13747C>T (p.R4583C) alteration is located in exon 92 (coding exon 91) of the DNAH8 gene. This alteration results from a C to T substitution at nucleotide position 13747, causing the arginine (R) at amino acid position 4583 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV004793355 SCV005407810 uncertain significance not provided 2024-08-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945942 SCV004759261 likely benign DNAH8-related disorder 2021-04-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.