ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.399C>T (p.Asn133=)

gnomAD frequency: 0.00036  dbSNP: rs577958598
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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 RCV001515979 SCV001724172 benign Griscelli syndrome type 2 2024-01-17 criteria provided, single submitter clinical testing

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