Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000610984 | SCV000729675 | likely benign | not specified | 2017-08-25 | 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. |
ARUP Laboratories, |
RCV000757705 | SCV000886030 | uncertain significance | not provided | 2017-10-06 | criteria provided, single submitter | clinical testing | The p.Ile189Asn variant (rs201715157) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.1 percent (identified on 287 out of 246,254 chromosomes). The isoleucine at position 189 is weakly conserved considering 12 species (Alamut v2.10) and computational analyses of the p.Ile189Asn variant on protein structure and function indicate a neutral effect (SIFT: tolerated, MutationTaster: polymorphism, PolyPhen-2:benign). Altogether, there is not enough evidence to classify the p.Ile189Asn variant with certainty. |
Invitae | RCV001089279 | SCV001013817 | benign | Immunodeficiency 104 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000757705 | SCV004125218 | likely benign | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | PTPRC: BS1 |
Prevention |
RCV003905649 | SCV004723582 | likely benign | PTPRC-related condition | 2020-03-17 | 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). |