ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.402C>T (p.Asp134=)

dbSNP: rs564234285
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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 RCV000944138 SCV001090101 likely benign Familial hemophagocytic lymphohistiocytosis 2 2024-02-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261240 SCV002542781 uncertain significance Autoinflammatory syndrome 2021-09-03 criteria provided, single submitter clinical testing

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