ClinVar Miner

Submissions for variant NM_001100.3(ACTA1):c.521C>T (p.Pro174Leu) (rs1057519311)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics RCV000415638 SCV000494014 likely pathogenic Nemaline myopathy 3 2016-12-30 no assertion criteria provided clinical testing Variant c.521C>T is not reported in 1000 genome and ExAc database. But it was found to be disease causing by software like Mutation Taster, SIFT, Polyphen2.

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