Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002792544 | SCV003586974 | uncertain significance | Inborn genetic diseases | 2021-10-29 | criteria provided, single submitter | clinical testing | The c.1423G>A (p.G475S) alteration is located in exon 12 (coding exon 11) of the LAMB3 gene. This alteration results from a G to A substitution at nucleotide position 1423, causing the glycine (G) at amino acid position 475 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Hudson |
RCV003313308 | SCV004012106 | uncertain significance | Amelogenesis imperfecta type 1A | 2023-05-31 | criteria provided, single submitter | research |