Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001245518 | SCV001418811 | likely benign | Primary ciliary dyskinesia | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003346411 | SCV004075396 | uncertain significance | Inborn genetic diseases | 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. |