ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.881A>T (p.Asp294Val)

dbSNP: rs121909529
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV003151734 SCV000040249 pathogenic Congenital myopathy 2c, severe infantile, autosomal dominant 2007-06-01 no assertion criteria provided literature only
GeneReviews RCV000019951 SCV000058546 not provided Congenital myopathy with fiber type disproportion no assertion provided literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001028007 SCV001190771 pathogenic Actin accumulation myopathy 2020-02-05 no assertion criteria provided clinical testing

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