ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.880G>T (p.Asp294Tyr)

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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 RCV003333906 SCV004041830 uncertain significance Congenital myopathy with fiber type disproportion 2013-02-01 criteria provided, single submitter clinical testing
Harry Perkins Institute Of Medical Research, University Of Western Australia RCV003333907 SCV004041841 likely pathogenic Primary dilated cardiomyopathy 2020-08-03 criteria provided, single submitter literature only

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