ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.1102C>T (p.Leu368Phe) (rs142508030)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717231 SCV000848080 benign History of neurodevelopmental disorder 2016-10-19 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000878427 SCV001021330 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2019-12-31 criteria provided, single submitter clinical testing

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