Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
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, |
RCV004793355 | SCV005407810 | uncertain significance | not provided | 2024-08-07 | criteria provided, single submitter | clinical testing | |
Prevention |
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). |