ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.126G>A (p.Val42=)

gnomAD frequency: 0.00001  dbSNP: rs1356387047
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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 RCV001932448 SCV002132928 likely benign Griscelli syndrome type 2 2024-01-29 criteria provided, single submitter clinical testing

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