Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV000660488 | SCV000782587 | uncertain significance | Agammaglobulinemia 2, autosomal recessive | 2017-01-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000660488 | SCV001096809 | likely benign | Agammaglobulinemia 2, autosomal recessive | 2024-01-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000660488 | SCV001477618 | uncertain significance | Agammaglobulinemia 2, autosomal recessive | 2023-10-02 | criteria provided, single submitter | clinical testing | The IGLL1 c.437C>T, p.Thr146Met variant (rs112775194), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 547919). This variant is found in the East Asian population with an allele frequency of 0.5% (91/19,954 alleles) in the Genome Aggregation Database. The threonine at codon 146 is weakly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Thr146Met variant is uncertain at this time. |
Ce |
RCV003884699 | SCV004701438 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | IGLL1: BP4, BS2 |