Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001468509 | SCV001672563 | likely benign | Pyruvate dehydrogenase E1-alpha deficiency | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002561295 | SCV003574202 | uncertain significance | Inborn genetic diseases | 2021-10-09 | criteria provided, single submitter | clinical testing | The c.899+4C>T intronic alteration consists of a C to T substitution 4 nucleotides after coding exon 9 in the PDHA1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |