ClinVar Miner

Submissions for variant NM_004343.4(CALR):c.1154_1155insTTGTC (p.Lys385fs)

gnomAD frequency: 0.00002  dbSNP: rs765476509
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329863 SCV001521412 pathogenic Thrombocythemia 1 2020-03-24 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital RCV004720860 SCV005328447 pathogenic not provided 2024-08-13 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796606 SCV005418290 pathogenic Thrombocythemia 1; Primary myelofibrosis criteria provided, single submitter clinical testing PM2_Supporting+PS3+PS4+PP4_Moderate

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