Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001330900 | SCV001522746 | uncertain significance | Combined oxidative phosphorylation deficiency 36 | 2019-03-21 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Ambry Genetics | RCV004035706 | SCV003584449 | uncertain significance | not specified | 2021-09-17 | criteria provided, single submitter | clinical testing | The c.862C>A (p.P288T) alteration is located in exon 4 (coding exon 4) of the MRPS2 gene. This alteration results from a C to A substitution at nucleotide position 862, causing the proline (P) at amino acid position 288 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |