ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.964-20T>C

gnomAD frequency: 0.00373  dbSNP: rs148402610
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001560448 SCV001782864 likely benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072124 SCV002403179 benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001560448 SCV005206924 likely benign not provided criteria provided, single submitter not provided

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