ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.78A>T (p.Thr26=)

gnomAD frequency: 0.00023  dbSNP: rs147424359
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000892628 SCV001036516 benign X-linked severe combined immunodeficiency 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000892628 SCV001329779 likely benign X-linked severe combined immunodeficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen RCV001702068 SCV004165333 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing IL2RG: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences RCV003950409 SCV004758681 likely benign IL2RG-related disorder 2019-12-09 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).
Natera, Inc. RCV000892628 SCV001453011 likely benign X-linked severe combined immunodeficiency 2020-04-11 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702068 SCV001929825 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702068 SCV001965996 likely benign not provided no assertion criteria provided clinical testing

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