ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.603C>T (p.Pro201=)

gnomAD frequency: 0.00016  dbSNP: rs146354628
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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 RCV000898056 SCV001042241 likely benign Chédiak-Higashi syndrome 2024-01-30 criteria provided, single submitter clinical testing

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