Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729578 | SCV000857251 | uncertain significance | not provided | 2018-03-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001416117 | SCV001618289 | likely benign | Niemann-Pick disease, type C1 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001416117 | SCV003816037 | uncertain significance | Niemann-Pick disease, type C1 | 2022-03-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003407591 | SCV004107628 | uncertain significance | NPC1-related condition | 2024-01-12 | criteria provided, single submitter | clinical testing | The NPC1 c.1937G>A variant is predicted to result in the amino acid substitution p.Arg646His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.081% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |