ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.398+1G>A

dbSNP: rs2127998616
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV001580137 SCV001798956 pathogenic RAB23-related Carpenter syndrome criteria provided, single submitter research

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