ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.96T>C (p.Gly32=)

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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 RCV005064791 SCV005698325 likely benign Griscelli syndrome type 2 2024-02-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003904438 SCV004721571 likely benign RAB27A-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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