ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.4863-4G>A

gnomAD frequency: 0.00032  dbSNP: rs201382097
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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 RCV000503459 SCV000595664 likely benign not specified 2016-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000873846 SCV001015925 benign Chédiak-Higashi syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263708 SCV002543637 likely benign Autoinflammatory syndrome 2018-07-01 criteria provided, single submitter clinical testing

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