ClinVar Miner

Submissions for variant NM_012134.3(LMOD1):c.1108C>T (p.Arg370Ter)

dbSNP: rs777696417
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics, Erasmus University Medical Center RCV000508596 SCV000299346 pathogenic Visceral myopathy 1 2016-09-15 no assertion criteria provided clinical testing Loss of protein. Functional experiments described in manuscript.
OMIM RCV001461845 SCV001665754 pathogenic Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 2021-06-02 no assertion criteria provided literature only

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