ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.8268C>T (p.His2756=)

gnomAD frequency: 0.00029  dbSNP: rs141534829
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000875921 SCV001018408 likely benign Chédiak-Higashi syndrome 2024-01-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413701 SCV004126149 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing LYST: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003413701 SCV005264391 likely benign not provided criteria provided, single submitter not provided

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