ClinVar Miner

Submissions for variant NM_001100.3(ACTA1):c.133G>T (p.Val45Phe) (rs398123562)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790786 SCV000700549 likely pathogenic not provided 2012-10-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000595451 SCV000807265 pathogenic Nemaline myopathy 3 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously described as disease-causing in the literature and has been identified once in our laboratory as a de novo mutation in a female who died at 6 weeks with minimal spontaneous movements, hypotonia, muscle weakness, micrognathia, primary myopathy, and severe respiratory insufficiency

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