ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.4929A>G (p.Lys1643=)

dbSNP: rs750662250
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262043 SCV002543638 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
Invitae RCV003523122 SCV004277357 likely benign Chédiak-Higashi syndrome 2023-12-25 criteria provided, single submitter clinical testing

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