ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.849-19C>T

gnomAD frequency: 0.00002  dbSNP: rs780237513
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002189423 SCV002347021 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 2 2024-01-10 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002222078 SCV002499627 uncertain significance Paroxysmal nocturnal hemoglobinuria 1 criteria provided, single submitter clinical testing

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