ClinVar Miner

Submissions for variant NM_004278.4(PIGL):c.627C>T (p.Phe209=)

gnomAD frequency: 0.00008  dbSNP: rs146164310
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147271 SCV000194643 uncertain significance CHIME syndrome 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000873114 SCV001015046 likely benign not provided 2024-10-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000873114 SCV004142298 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing PIGL: BP4, BP7

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