ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.10965G>A (p.Ala3655=)

dbSNP: rs762254542
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000882095 SCV001025315 likely benign Chédiak-Higashi syndrome 2024-11-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711367 SCV005264385 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003920564 SCV004728109 likely benign LYST-related disorder 2020-06-12 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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