ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.443G>T (p.Gly148Val)

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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 RCV003333923 SCV004041847 likely pathogenic Centronuclear myopathy 2015-08-16 criteria provided, single submitter research
Harry Perkins Institute Of Medical Research, University Of Western Australia RCV003333924 SCV004041848 likely pathogenic Nemaline myopathy 2020-07-13 criteria provided, single submitter literature only

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