ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.190C>T (p.Gln64Ter)

dbSNP: rs104894180
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003460476 SCV004206503 pathogenic Aplastic anemia 2022-03-29 criteria provided, single submitter clinical testing
OMIM RCV000014710 SCV000034965 pathogenic Familial hemophagocytic lymphohistiocytosis 2 2001-03-01 no assertion criteria provided literature only

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