Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001330895 | SCV001522741 | uncertain significance | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | 2020-03-06 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |