ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.8358+7A>T

dbSNP: rs752173624
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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 RCV001448008 SCV001651089 likely benign Chédiak-Higashi syndrome 2023-10-04 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573619 SCV001799779 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573619 SCV001970176 likely benign not provided no assertion criteria provided clinical testing

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