ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.925C>T (p.Pro309Ser)

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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 RCV003333919 SCV004041843 likely pathogenic Congenital myopathy 2020-12-14 criteria provided, single submitter literature only

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