Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001278255 | SCV003522484 | likely benign | Methylmalonic aciduria, cblA type | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002541678 | SCV003617812 | uncertain significance | Inborn genetic diseases | 2022-05-09 | criteria provided, single submitter | clinical testing | The c.393A>T (p.R131S) alteration is located in exon 2 (coding exon 1) of the MMAA gene. This alteration results from a A to T substitution at nucleotide position 393, causing the arginine (R) at amino acid position 131 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001278255 | SCV001465253 | uncertain significance | Methylmalonic aciduria, cblA type | 2020-10-19 | no assertion criteria provided | clinical testing |