ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.3702C>A (p.Thr1234=)

gnomAD frequency: 0.00001  dbSNP: rs151187564
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000960400 SCV001107370 likely benign Chédiak-Higashi syndrome 2024-01-15 criteria provided, single submitter clinical testing

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