ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.221+14C>G

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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 RCV005139438 SCV005768322 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2024-02-26 criteria provided, single submitter clinical testing

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