Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001768154 | SCV002008592 | likely benign | not provided | 2021-02-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004040715 | SCV003694839 | uncertain significance | not specified | 2024-07-27 | criteria provided, single submitter | clinical testing | The c.1294C>A (p.Q432K) alteration is located in exon 10 (coding exon 10) of the BDP1 gene. This alteration results from a C to A substitution at nucleotide position 1294, causing the glutamine (Q) at amino acid position 432 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Breakthrough Genomics, |
RCV001768154 | SCV005222696 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV004758193 | SCV005351080 | likely benign | BDP1-related disorder | 2024-06-05 | 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). |