ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.5061T>C (p.Tyr1687=)

gnomAD frequency: 0.00004  dbSNP: rs80338658
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001396177 SCV001597902 likely benign Chédiak-Higashi syndrome 2024-09-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413749 SCV004126158 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing LYST: BP4, BP7

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