ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.1574+9T>C

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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 RCV003640399 SCV004445304 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2023-10-27 criteria provided, single submitter clinical testing

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