ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.11268-6_11268-5del

dbSNP: rs36014994
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000399343 SCV000355688 likely benign Chédiak-Higashi syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000399343 SCV001727453 benign Chédiak-Higashi syndrome 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001547225 SCV001766882 likely benign not provided 2019-08-13 criteria provided, single submitter clinical testing

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