ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.1421G>T (p.Gly474Val)

gnomAD frequency: 0.00003  dbSNP: rs142772459
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000973987 SCV001121787 benign Multiple congenital anomalies-hypotonia-seizures syndrome 2 2023-05-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702578 SCV001932008 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702578 SCV001963672 likely benign not provided no assertion criteria provided clinical testing

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