ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.3359G>T (p.Ser1120Ile)

gnomAD frequency: 0.00302  dbSNP: rs143223086
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251744 SCV000301963 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000629245 SCV000750174 benign Chédiak-Higashi syndrome 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262863 SCV002543625 likely benign Autoinflammatory syndrome 2018-02-02 criteria provided, single submitter clinical testing

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