ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.416T>C (p.Leu139Pro)

dbSNP: rs1593208594
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000790522 SCV000929855 uncertain significance RAB23-related Carpenter syndrome criteria provided, single submitter research

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