Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732955 | SCV000860957 | uncertain significance | not provided | 2018-04-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001392755 | SCV001594404 | likely benign | Niemann-Pick disease, type C1 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV003396308 | SCV004118994 | uncertain significance | NPC1-related condition | 2022-12-07 | criteria provided, single submitter | clinical testing | The NPC1 c.1549G>A variant is predicted to result in the amino acid substitution p.Val517Ile. This variant has been reported as benign in an exome sequencing study (Wassif et al. 2016. PubMed ID: 25764212). This variant is reported in 0.071% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/18-21134726-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |