ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.948C>T (p.Phe316=)

dbSNP: rs201235771
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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 RCV001402386 SCV001604233 likely benign Familial hemophagocytic lymphohistiocytosis 2 2023-12-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920881 SCV004733061 likely benign PRF1-related disorder 2023-07-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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