Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001246533 | SCV001419892 | likely benign | Jeune thoracic dystrophy | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003166547 | SCV003862523 | uncertain significance | Inborn genetic diseases | 2023-02-23 | criteria provided, single submitter | clinical testing | The c.4020G>T (p.Q1340H) alteration is located in exon 26 (coding exon 26) of the DYNC2H1 gene. This alteration results from a G to T substitution at nucleotide position 4020, causing the glutamine (Q) at amino acid position 1340 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |