Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000210638 | SCV000262927 | uncertain significance | Inborn genetic diseases | 2014-06-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086911 | SCV000773028 | likely benign | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000658743 | SCV000780532 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | IL21R: BP4 |
Eurofins Ntd Llc |
RCV000658743 | SCV000858455 | uncertain significance | not provided | 2017-11-30 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV001280967 | SCV001468345 | uncertain significance | IgE responsiveness, atopic; Cryptosporidiosis-chronic cholangitis-liver disease syndrome | 2021-03-30 | criteria provided, single submitter | clinical testing | IL21R NM_021798.3 exon 9 p.Gly345Ser (c.1033G>A): This variant has been reported in the literature in at least 1 individual referred for an unspecified immune disorder (Hagman 2017 PMID:27513193). This variant is present in 0.3% (480/128220) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/16-27460020-G-A?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:225037). This variant amino acid Serine (Ser) is present in 4 species (Crab-eating macaque, Squirrel monkey, Bat, Microbat); this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Baylor Genetics | RCV001086911 | SCV001528159 | uncertain significance | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | 2018-06-22 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |