ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.2353C>T (p.Arg785Ter)

dbSNP: rs2022057
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003490007 SCV004238368 pathogenic not provided 2023-05-02 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003797 SCV001162241 likely pathogenic Hemolytic anemia no assertion criteria provided research

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