ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.440C>A (p.Ser147Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Harry Perkins Institute Of Medical Research, University Of Western Australia RCV003333927 SCV004041850 pathogenic Fetal akinesia 2017-07-04 criteria provided, single submitter clinical testing
Harry Perkins Institute Of Medical Research, University Of Western Australia RCV003333926 SCV004041851 likely pathogenic Fetal akinesia deformation sequence 2020-10-15 criteria provided, single submitter literature only

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