ClinVar Miner

Submissions for variant NM_001615.4(ACTG2):c.588G>C (p.Glu196Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UOSD Genetics and Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001263535 SCV001422493 likely pathogenic Visceral myopathy 2020-04-28 no assertion criteria provided provider interpretation

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