ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.440C>T (p.Ser147Phe)

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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 RCV003333925 SCV004041849 likely pathogenic Neuromuscular disease 2020-06-11 criteria provided, single submitter literature only
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire RCV004587486 SCV005038572 pathogenic Actin accumulation myopathy 2024-03-01 criteria provided, single submitter research PS2+PM1+PM2+PP1+PP2+PP3

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