ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.6141G>A (p.Glu2047=)

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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 RCV001494614 SCV001699274 likely benign Chédiak-Higashi syndrome 2021-10-02 criteria provided, single submitter clinical testing

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