ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.1046T>C (p.Leu349Pro)

dbSNP: rs1848169364
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001169866 SCV001251774 likely pathogenic Familial hemophagocytic lymphohistiocytosis 2 2020-05-03 criteria provided, single submitter clinical testing

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