ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.597C>G (p.Asp199Glu)

gnomAD frequency: 0.00238  dbSNP: rs112127610
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000629228 SCV000750146 likely benign Chédiak-Higashi syndrome 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821770 SCV002065541 likely benign not specified 2020-04-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884671 SCV004700165 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing LYST: BP4

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