ClinVar Miner

Submissions for variant NM_000215.4(JAK3):c.2806-13C>T

gnomAD frequency: 0.00498  dbSNP: rs193156379
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718834 SCV000513303 benign not provided 2020-04-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001122646 SCV001281389 benign 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001122646 SCV001732937 benign T-B+ severe combined immunodeficiency due to JAK3 deficiency 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001718834 SCV005313609 benign not provided criteria provided, single submitter not provided

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