ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.2101C>T (p.Leu701=)

gnomAD frequency: 0.00016  dbSNP: rs772075726
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 RCV001496700 SCV001701409 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001574724 SCV001801593 likely benign not provided 2020-05-01 criteria provided, single submitter clinical testing

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