ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.148A>C (p.Arg50=)

gnomAD frequency: 0.00001  dbSNP: rs767963780
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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 RCV002126695 SCV002460642 likely benign Griscelli syndrome type 2 2020-11-17 criteria provided, single submitter clinical testing

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