ClinVar Miner

Submissions for variant NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)

gnomAD frequency: 0.00500  dbSNP: rs41316003
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000892279 SCV001036142 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000892279 SCV001841101 benign not provided 2020-01-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32172663, 30377194, 27389715, 23670291, 31135094, 19643476, 29296762)
Genetic Services Laboratory, University of Chicago RCV000121244 SCV002066044 benign not specified 2021-05-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492429 SCV002804160 benign Primary familial polycythemia due to EPO receptor mutation; Acquired polycythemia vera; Budd-Chiari syndrome; Primary myelofibrosis; Acute myeloid leukemia; Thrombocythemia 3 2022-04-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000892279 SCV004161836 benign not provided 2024-03-01 criteria provided, single submitter clinical testing JAK2: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000892279 SCV004564044 likely benign not provided 2023-03-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915208 SCV004732306 likely benign JAK2-related disorder 2021-10-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000121244 SCV000085415 not provided not specified 2013-09-19 no assertion provided reference population

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