ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.1675-8A>G

gnomAD frequency: 0.00006  dbSNP: rs369093643
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 RCV000890738 SCV001034506 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2023-12-14 criteria provided, single submitter clinical testing
GeneDx RCV001593125 SCV001817151 likely benign not provided 2020-08-11 criteria provided, single submitter clinical testing

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