ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.593G>A (p.Arg198His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003228209 SCV003924321 pathogenic Congenital myopathy 2c, severe infantile, autosomal dominant 2023-05-08 criteria provided, single submitter research

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