Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001278252 | SCV002434464 | likely benign | Methylmalonic aciduria, cblA type | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002541677 | SCV003675712 | uncertain significance | Inborn genetic diseases | 2022-10-03 | criteria provided, single submitter | clinical testing | The c.269A>T (p.Y90F) 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 269, causing the tyrosine (Y) at amino acid position 90 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001278252 | SCV001465250 | uncertain significance | Methylmalonic aciduria, cblA type | 2020-04-16 | no assertion criteria provided | clinical testing |