Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000346348 | SCV000336144 | uncertain significance | not provided | 2015-10-20 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001332216 | SCV001524459 | uncertain significance | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2019-11-06 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |