ClinVar Miner

Submissions for variant NM_000215.4(JAK3):c.696C>T (p.His232=)

gnomAD frequency: 0.00029  dbSNP: rs199902822
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539286 SCV000638328 benign T-B+ severe combined immunodeficiency due to JAK3 deficiency 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000539286 SCV001285698 uncertain significance T-B+ severe combined immunodeficiency due to JAK3 deficiency 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.

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