Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179319 | SCV000231551 | likely pathogenic | not provided | 2017-04-12 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001329340 | SCV001520758 | uncertain significance | Sandhoff disease | 2020-06-08 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |