ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.273G>A (p.Ala91=)

gnomAD frequency: 0.00002  dbSNP: rs778821122
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001450285 SCV001653887 likely benign Familial hemophagocytic lymphohistiocytosis 2 2024-01-29 criteria provided, single submitter clinical testing

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