Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001336656 | SCV001530095 | uncertain significance | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 2018-04-13 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV003770864 | SCV004625858 | likely benign | not provided | 2023-05-09 | criteria provided, single submitter | clinical testing |