ClinVar Miner

Submissions for variant NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) (rs55778349)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224911 SCV000281148 benign not provided 2015-05-06 criteria provided, single submitter clinical testing
GeneDx RCV000121271 SCV000513301 likely benign not specified 2016-07-12 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000121271 SCV000539412 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 heterozygote individual with SCID (Schumacher 2000). 1.3% frequency.
Invitae RCV001084083 SCV000638327 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 RCV001084083 SCV001288019 uncertain significance 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Integrated Genetics/Laboratory Corporation of America RCV000030094 SCV000052749 likely benign Severe combined immunodeficiency disease 2015-10-02 no assertion criteria provided clinical testing
ITMI RCV000121271 SCV000085442 not provided not specified 2013-09-19 no assertion provided reference population

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