Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000596113 | SCV000700332 | pathogenic | not provided | 2017-03-03 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000003120 | SCV000023278 | pathogenic | Niemann-Pick disease, type A | 2010-03-11 | no assertion criteria provided | literature only |