ClinVar Miner

Submissions for variant NM_004972.4(JAK2):c.1458T>G (p.Val486=)

gnomAD frequency: 0.00282  dbSNP: rs10119726
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000967113 SCV001114484 benign not provided 2024-12-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819072 SCV002068165 benign not specified 2021-04-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000967113 SCV005273218 benign not provided criteria provided, single submitter not provided

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