ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.1266G>A (p.Arg422=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002756080 SCV003026084 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 3 2022-03-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004809855 SCV005435416 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing PIGT: PM2:Supporting, BP4, BP7

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