ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.990C>T (p.Asn330=)

gnomAD frequency: 0.00006  dbSNP: rs368769599
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001458651 SCV001662476 likely benign Familial hemophagocytic lymphohistiocytosis 2 2024-10-18 criteria provided, single submitter clinical testing

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