ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.8607A>G (p.Gln2869=)

gnomAD frequency: 0.00004  dbSNP: rs369484787
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625391 SCV000745215 likely benign Chédiak-Higashi syndrome 2017-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000625391 SCV001095903 likely benign Chédiak-Higashi syndrome 2024-10-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003420083 SCV004126148 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing LYST: BP4, BP7
Clinical Genetics, Academic Medical Center RCV001700275 SCV001921382 benign not specified no assertion criteria provided clinical testing

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