ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.4G>T (p.Asp2Tyr)

dbSNP: rs1784841309
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001254056 SCV001429964 likely pathogenic Baraitser-Winter syndrome 1 2020-01-16 criteria provided, single submitter clinical testing

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