ClinVar Miner

Submissions for variant NM_004972.4(JAK2):c.2571+5A>C

gnomAD frequency: 0.00004  dbSNP: rs775085241
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000927992 SCV001073593 likely benign not provided 2023-12-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000927992 SCV004700176 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing JAK2: BP4
GenomeConnect, ClinGen RCV000709880 SCV000840221 not provided Acquired polycythemia vera; Acute myeloid leukemia; Thrombocythemia 3 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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