Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000757400 | SCV000885604 | likely benign | not provided | 2018-04-01 | criteria provided, single submitter | clinical testing | The c.420T>C; p.Phe140Phe variant (rs1064423) does not alter the amino acid sequence of the IGLL1 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with antibody deficiency in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.04% (identified on 106 out of 276,448 chromosomes). Based on the available information, the c.420T>C variant is likely to be benign. |
Invitae | RCV001089138 | SCV001115032 | likely benign | Agammaglobulinemia 2, autosomal recessive | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000757400 | SCV001746440 | likely benign | not provided | 2021-04-01 | criteria provided, single submitter | clinical testing |