ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.5461-13_5461-12dup

dbSNP: rs557545474
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516374 SCV001724647 benign Chédiak-Higashi syndrome 2025-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001572737 SCV005328117 likely benign not provided 2020-04-17 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572737 SCV001797561 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701183 SCV001919251 benign not specified no assertion criteria provided clinical testing

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