ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.7032A>G (p.Ser2344=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001462162 SCV001666075 likely benign Chédiak-Higashi syndrome 2024-04-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003983907 SCV004797273 likely benign LYST-related disorder 2021-05-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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