ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.769T>G (p.Cys257Gly)

dbSNP: rs2132476466
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital RCV001594429 SCV001499914 likely pathogenic Familial hemophagocytic lymphohistiocytosis 2 2020-12-20 criteria provided, single submitter clinical testing

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