ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.5037T>C (p.Gly1679=)

gnomAD frequency: 0.00001  dbSNP: rs753293453
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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 RCV002073415 SCV002445221 likely benign Chédiak-Higashi syndrome 2024-01-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001730221 SCV001977837 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001730221 SCV001980343 likely benign not provided no assertion criteria provided clinical testing

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