ClinVar Miner

Submissions for variant NM_130466.4(UBE3B):c.2962G>A (p.Ala988Thr)

gnomAD frequency: 0.00006  dbSNP: rs753221661
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Disease Group, Clinical Genetics, Karolinska Institutet RCV000677247 SCV000681427 likely benign Optic nerve hypoplasia criteria provided, single submitter research
Baylor Genetics RCV001329612 SCV001521102 uncertain significance Oculocerebrofacial syndrome, Kaufman type 2019-03-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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