ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.10965G>C (p.Ala3655=)

gnomAD frequency: 0.00003  dbSNP: rs762254542
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002181740 SCV002483830 likely benign Chédiak-Higashi syndrome 2023-12-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264478 SCV002543607 uncertain significance Autoinflammatory syndrome 2018-05-01 criteria provided, single submitter clinical testing

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