ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.359C>T (p.Thr120Ile)

dbSNP: rs587779774
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Robert DEBRE University Hospital RCV000133571 SCV000148641 pathogenic Baraitser-Winter syndrome 1 2014-04-15 no assertion criteria provided clinical testing
OMIM RCV000133571 SCV000238554 pathogenic Baraitser-Winter syndrome 1 2014-07-23 no assertion criteria provided literature only
GeneReviews RCV002055273 SCV000257373 not provided Baraitser-Winter syndrome no assertion provided literature only Assoc w/severe phenotype [Di Donato et al 2014]

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