ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.143G>C (p.Gly48Ala)

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Total submissions: 1
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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 RCV003333931 SCV004041855 likely pathogenic Congenital myopathy with fiber type disproportion 2018-08-17 criteria provided, single submitter literature only

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