ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.1382G>A (p.Arg461Gln)

gnomAD frequency: 0.00002  dbSNP: rs769061128
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624780 SCV000742784 uncertain significance Inborn genetic diseases 2017-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522945 SCV001732583 benign Multiple congenital anomalies-hypotonia-seizures syndrome 2 2025-01-06 criteria provided, single submitter clinical testing

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