ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.8229G>A (p.Gln2743=)

dbSNP: rs1572118809
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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 RCV005092855 SCV001084614 likely benign Chédiak-Higashi syndrome 2024-07-20 criteria provided, single submitter clinical testing

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