ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.193C>G (p.Leu65Val) (rs281875332)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000022441 SCV000043730 pathogenic Baraitser-Winter syndrome 1 2012-02-26 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059718 SCV000091288 not provided not provided no assertion provided not provided
GeneReviews RCV000022441 SCV000257370 pathogenic Baraitser-Winter syndrome 1 2015-09-17 no assertion criteria provided literature only

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