ClinVar Miner

Submissions for variant NM_012433.4(SF3B1):c.1874G>A (p.Arg625His)

dbSNP: rs1057519961
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV004584382 SCV002054119 likely pathogenic See cases 2021-12-05 criteria provided, single submitter clinical testing ACMG categories: PM2,PP2,PP3,PP4,PP5,BP1
Database of Curated Mutations (DoCM) RCV000434927 SCV000507360 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418149 SCV000507361 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428407 SCV000507362 likely pathogenic B-cell chronic lymphocytic leukemia 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000437765 SCV000507363 likely pathogenic Adenoid cystic carcinoma 2016-05-31 no assertion criteria provided literature only

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