ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.-5C>T

gnomAD frequency: 0.00475  dbSNP: rs141317482
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248049 SCV000301951 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000294585 SCV000355812 uncertain significance Chédiak-Higashi syndrome 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513207 SCV000608533 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing LYST: BP4, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262860 SCV002543648 likely benign Autoinflammatory syndrome 2021-09-16 criteria provided, single submitter clinical testing

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