ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.1869A>G (p.Ala623=)

dbSNP: rs763671604
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000649319 SCV000771146 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2024-10-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424237 SCV004143212 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing PIGN: BP4, BP7

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