Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000210877 | SCV000807254 | pathogenic | Epsilon-trimethyllysine hydroxylase deficiency | 2017-09-01 | criteria provided, single submitter | clinical testing | This variant was found once in our laboratory maternally inherited in a 4-year-old male with autism, developmental delay/regression, speech delay. This patient has since been published (PMID:25943046). |
Mendelics | RCV000210877 | SCV002519877 | pathogenic | Epsilon-trimethyllysine hydroxylase deficiency | 2022-05-04 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000210877 | SCV000267178 | risk factor | Epsilon-trimethyllysine hydroxylase deficiency | 2016-07-27 | no assertion criteria provided | literature only |