ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.1013C>T (p.Ser338Phe)

dbSNP: rs1554329113
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000505179 SCV000599235 likely pathogenic Baraitser-Winter syndrome 1 2016-11-24 no assertion criteria provided clinical testing

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