ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.145G>A (p.Val49Met)

dbSNP: rs1569180100
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761517 SCV000891648 likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 2 2024-06-12 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV000761517 SCV002292536 likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 2 2021-08-31 criteria provided, single submitter clinical testing
Mendelics RCV002249463 SCV002518853 pathogenic Paroxysmal nocturnal hemoglobinuria 1 2022-05-04 criteria provided, single submitter clinical testing

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