ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.5919G>A (p.Leu1973=)

gnomAD frequency: 0.00006  dbSNP: rs748908539
Minimum review status: Collection method:
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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
Invitae RCV002140927 SCV002466758 likely benign Chédiak-Higashi syndrome 2023-11-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264474 SCV002543646 uncertain significance Autoinflammatory syndrome 2020-02-01 criteria provided, single submitter clinical testing

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