ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.153+10A>G

gnomAD frequency: 0.00001  dbSNP: rs774986160
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264501 SCV002542913 uncertain significance Autoinflammatory syndrome 2020-09-29 criteria provided, single submitter clinical testing
Invitae RCV003101470 SCV003486524 likely benign Griscelli syndrome type 2 2023-07-10 criteria provided, single submitter clinical testing

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