ClinVar Miner

Submissions for variant NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs)

dbSNP: rs1555760738
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002498437 SCV002812646 pathogenic Thrombocythemia 1; Primary myelofibrosis 2022-02-10 criteria provided, single submitter clinical testing
OMIM RCV000083256 SCV000115335 pathogenic Primary myelofibrosis 2013-12-19 no assertion criteria provided literature only
OMIM RCV000083257 SCV000115336 pathogenic Thrombocythemia 1 2013-12-19 no assertion criteria provided literature only

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