ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.963del (p.Glu323fs)

dbSNP: rs2132476029
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814781 SCV002061597 likely pathogenic Familial hemophagocytic lymphohistiocytosis 2 2021-09-22 criteria provided, single submitter clinical testing PVS1, PM2

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