ClinVar Miner

Submissions for variant NM_130466.4(UBE3B):c.2624dup (p.Asn875fs)

dbSNP: rs2136102483
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Daryl Scott Lab, Baylor College of Medicine RCV002245275 SCV002515299 pathogenic Oculocerebrofacial syndrome, Kaufman type 2022-02-01 criteria provided, single submitter clinical testing

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