ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.1214C>T (p.Ala405Val)

gnomAD frequency: 0.00011  dbSNP: rs201361742
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698229 SCV000532040 benign not provided 2021-06-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31037862)
Labcorp Genetics (formerly Invitae), Labcorp RCV000541463 SCV000650863 benign Multiple congenital anomalies-hypotonia-seizures syndrome 2 2024-11-18 criteria provided, single submitter clinical testing

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