ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.1386T>C (p.Gly462=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003441037 SCV004166577 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing PIGA: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003645364 SCV004433289 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 2 2024-09-12 criteria provided, single submitter clinical testing

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