ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.1671A>G (p.Val557=)

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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 RCV003641982 SCV004521894 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2023-06-17 criteria provided, single submitter clinical testing

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