ClinVar Miner

Submissions for variant NM_001615.4(ACTG2):c.443G>T (p.Arg148Leu) (rs730880256)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Paediatric Surgery,The Canberra Hospital RCV000157596 SCV000207375 likely pathogenic Visceral myopathy 2014-03-28 no assertion criteria provided clinical testing Strongly associated with severe chronic constipation, TPN dependence in some cases, and early death.
OMIM RCV000157596 SCV001752411 pathogenic Visceral myopathy 2021-07-15 no assertion criteria provided literature only

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