ClinVar Miner

Submissions for variant NM_001615.4(ACTG2):c.442C>A (p.Arg148Ser)

dbSNP: rs587777383
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000119266 SCV000154701 pathogenic Visceral myopathy 1 2014-06-01 no assertion criteria provided literature only
UOSD Genetics and Genomics of Rare Diseases, Istituto Giannina Gaslini RCV000210361 SCV000256216 pathogenic Chronic intestinal pseudoobstruction 2015-05-02 no assertion criteria provided research

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