Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000127221 | SCV000170775 | benign | not specified | 2014-02-16 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001080969 | SCV000767338 | likely benign | Cryopyrin associated periodic syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000756442 | SCV000884260 | likely benign | not provided | 2017-06-30 | criteria provided, single submitter | clinical testing | The NLRP3 c.1407C>T;p.Leu469Leu variant is not described in the medical literature or in gene-specific databases. The variant is listed in the ClinVar database (Variation ID: 138531) and the dbSNP variant database (rs141637807) with an allele frequency of 0.0231 percent (3/13003 alleles) in the Exome Variant Server and 0.03269 percent (89/27224 alleles) in the Genome Aggregation Database. The nucleotide at this position is weakly conserved across species and computational algorithms (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) predict this variant does not change splicing. Considering available information, this variant is classified as likely benign. |
Ce |
RCV000756442 | SCV000891899 | likely benign | not provided | 2018-06-01 | criteria provided, single submitter | clinical testing |