ClinVar Miner

Submissions for variant NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln) (rs1553396458)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000585773 SCV000693700 likely pathogenic Visceral myopathy 2016-10-17 criteria provided, single submitter clinical testing
Wangler Lab,Baylor College of Medicine RCV000585773 SCV000995020 pathogenic Visceral myopathy 2019-10-04 no assertion criteria provided case-control Identified as a de novo event in our clinical cohort of MMIHS
GeneReviews RCV000585773 SCV001739287 pathogenic Visceral myopathy 2021-05-06 no assertion criteria provided literature only Insufficient data for genotype-phenotype correlations

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