ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.5223T>C (p.Leu1741=)

gnomAD frequency: 0.00277  dbSNP: rs7530527
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502313 SCV000595663 likely benign not specified 2016-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000878826 SCV001021802 benign Chédiak-Higashi syndrome 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001727733 SCV005264402 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000502313 SCV001918335 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727733 SCV001970449 likely benign not provided no assertion criteria provided clinical testing

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