ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.2355T>C (p.Leu785=)

gnomAD frequency: 0.10928  dbSNP: rs3768066
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242666 SCV000301961 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000377101 SCV000355788 likely benign Chédiak-Higashi syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000377101 SCV001723935 benign Chédiak-Higashi syndrome 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001651097 SCV001868440 benign not provided 2018-06-25 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000242666 SCV004232851 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 21% of patients studied by a panel of primary immunodeficiencies. Number of patients: 20. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001651097 SCV005264415 likely benign not provided criteria provided, single submitter not provided

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