ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.11382C>T (p.Phe3794=)

gnomAD frequency: 0.00102  dbSNP: rs111770759
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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 RCV000876686 SCV001019290 likely benign Chédiak-Higashi syndrome 2025-02-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005056650 SCV005726667 likely benign not specified 2024-11-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967935 SCV004778328 likely benign LYST-related disorder 2020-05-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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