ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.9552G>T (p.Leu3184Phe)

gnomAD frequency: 0.00019  dbSNP: rs556200563
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592250 SCV000708126 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000816912 SCV000957441 likely benign Chédiak-Higashi syndrome 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000592250 SCV005186342 uncertain significance not provided criteria provided, single submitter not provided

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