ClinVar Miner

Submissions for variant NM_024769.5(CLMP):c.664C>T (p.Arg222Ter)

dbSNP: rs587776966
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris RCV000043526 SCV000586796 pathogenic Intestinal pseudo-obstruction 2017-01-06 criteria provided, single submitter clinical testing neonatal feeding difficulties; no Intellectual disability
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000043526 SCV000746333 pathogenic Intestinal pseudo-obstruction 2017-12-03 criteria provided, single submitter clinical testing
OMIM RCV001449574 SCV000067395 pathogenic Congenital short bowel syndrome, autosomal recessive 2012-03-01 no assertion criteria provided literature only

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