ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.384T>C (p.His128=)

gnomAD frequency: 0.00007  dbSNP: rs750216116
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518903 SCV001727680 benign Multiple congenital anomalies-hypotonia-seizures syndrome 2 2025-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438594 SCV004166582 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing PIGA: BP4, BP7, BS2

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