ClinVar Miner

Submissions for variant NM_000215.3(JAK3):c.2259C>T (p.Ala753=) (rs35458530)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030090 SCV000052745 benign Severe combined immunodeficiency disease 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
GeneDx RCV000125434 SCV000168886 benign not specified 2012-11-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000537534 SCV000638319 benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000537534 SCV001285597 benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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