ClinVar Miner

Submissions for variant NM_000215.3(JAK3):c.2152G>C (p.Val718Leu) (rs146837396)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000352396 SCV000411105 uncertain significance Severe Combined Immune Deficiency 2016-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625141 SCV000743863 likely benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625141 SCV000745285 likely benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 2017-07-05 criteria provided, single submitter clinical testing
Invitae RCV000625141 SCV000761222 likely benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 2017-12-12 criteria provided, single submitter clinical testing
ITMI RCV000121261 SCV000085432 not provided not specified 2013-09-19 no assertion provided reference population

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