ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.7368T>C (p.Asn2456=)

gnomAD frequency: 0.00026  dbSNP: rs199631995
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000398407 SCV000355731 uncertain significance Chédiak-Higashi syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000503305 SCV000595661 likely benign not specified 2016-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000398407 SCV000750151 likely benign Chédiak-Higashi syndrome 2025-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000503305 SCV005039033 likely benign not specified 2024-03-27 criteria provided, single submitter clinical testing

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