ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.6258G>A (p.Glu2086=)

gnomAD frequency: 0.00006  dbSNP: rs771882274
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001405950 SCV001607895 likely benign Chédiak-Higashi syndrome 2020-11-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699485 SCV001917432 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000964449 SCV001966054 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003970846 SCV004785868 likely benign LYST-related disorder 2021-09-08 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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