ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.9045-4A>G

gnomAD frequency: 0.00001  dbSNP: rs769310836
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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 RCV003772182 SCV004653414 likely benign Chédiak-Higashi syndrome 2023-01-25 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001795513 SCV002034506 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796927 SCV002037829 likely benign not provided no assertion criteria provided clinical testing

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