Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000944579 | SCV001090550 | likely benign | Niemann-Pick disease, type C1 | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003326520 | SCV004033607 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | NPC1: BP4, BP7 |
Prevention |
RCV003970639 | SCV004780683 | likely benign | NPC1-related condition | 2019-08-29 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV000944579 | SCV001463706 | likely benign | Niemann-Pick disease, type C1 | 2020-05-04 | no assertion criteria provided | clinical testing |