ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.4128T>C (p.Leu1376=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005078931 SCV005707530 likely benign Chédiak-Higashi syndrome 2024-02-11 criteria provided, single submitter clinical testing

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