ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.1290C>T (p.Asp430=)

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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 RCV003841394 SCV004692837 likely benign Familial hemophagocytic lymphohistiocytosis 2 2024-09-23 criteria provided, single submitter clinical testing

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