ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.11268-17dup

dbSNP: rs36014994
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000352701 SCV000355687 uncertain significance Chédiak-Higashi syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000352701 SCV001727455 benign Chédiak-Higashi syndrome 2024-01-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262930 SCV002543608 likely benign Autoinflammatory syndrome 2018-08-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699341 SCV001918293 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699341 SCV001975731 benign not specified no assertion criteria provided clinical testing

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