Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001330896 | SCV001522742 | likely pathogenic | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | 2019-08-30 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |