Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004176752 | SCV003661634 | uncertain significance | not specified | 2021-09-01 | criteria provided, single submitter | clinical testing | The c.2278C>T (p.P760S) alteration is located in exon 10 (coding exon 9) of the DHX34 gene. This alteration results from a C to T substitution at nucleotide position 2278, causing the proline (P) at amino acid position 760 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003973740 | SCV004788459 | likely benign | DHX34-related disorder | 2022-08-22 | 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). |