Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001969571 | SCV002260583 | uncertain significance | Microphthalmia with brain and digit anomalies; Orofacial cleft 11 | 2021-08-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002573381 | SCV003690688 | uncertain significance | Inborn genetic diseases | 2022-07-20 | criteria provided, single submitter | clinical testing | The c.1223G>A (p.R408H) alteration is located in exon 4 (coding exon 2) of the BMP4 gene. This alteration results from a G to A substitution at nucleotide position 1223, causing the arginine (R) at amino acid position 408 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |