ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.984T>C (p.Val328=)

dbSNP: rs2147717510
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001499490 SCV001704254 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 2 2023-07-23 criteria provided, single submitter clinical testing

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