Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078476 | SCV000110332 | uncertain significance | not provided | 2012-09-12 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001335213 | SCV001528306 | uncertain significance | Niemann-Pick disease, type C1 | 2018-04-11 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001335213 | SCV001639152 | likely benign | Niemann-Pick disease, type C1 | 2024-01-29 | criteria provided, single submitter | clinical testing |