Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000843135 | SCV000985168 | likely benign | not provided | 2020-08-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004601294 | SCV005098527 | uncertain significance | not specified | 2024-06-16 | criteria provided, single submitter | clinical testing | The c.2788G>A (p.E930K) alteration is located in exon 17 (coding exon 17) of the BDP1 gene. This alteration results from a G to A substitution at nucleotide position 2788, causing the glutamic acid (E) at amino acid position 930 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Breakthrough Genomics, |
RCV000843135 | SCV005222774 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003938202 | SCV004751162 | likely benign | BDP1-related disorder | 2023-11-28 | 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). |