ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.225C>T (p.Leu75=)

dbSNP: rs2132478434
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002107144 SCV002330362 likely benign Familial hemophagocytic lymphohistiocytosis 2 2024-02-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261446 SCV002542773 uncertain significance Autoinflammatory syndrome 2019-03-01 criteria provided, single submitter clinical testing

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