ClinVar Miner

Submissions for variant NM_130466.4(UBE3B):c.2923-1G>T

dbSNP: rs1409120511
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988901 SCV001138808 pathogenic Oculocerebrofacial syndrome, Kaufman type 2019-05-28 criteria provided, single submitter clinical testing

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