ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.1848C>T (p.Asn616=)

gnomAD frequency: 0.00001  dbSNP: rs376259384
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193680 SCV000247873 uncertain significance not specified 2015-03-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056992 SCV002492104 likely benign Chédiak-Higashi syndrome 2024-01-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262785 SCV002543614 uncertain significance Autoinflammatory syndrome 2020-07-21 criteria provided, single submitter clinical testing

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