ClinVar Miner

Submissions for variant NM_005198.5(CHKB):c.1129C>T (p.Arg377Trp)

dbSNP: rs766848672
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, RCV000850189 SCV000987180 uncertain significance Megaconial type congenital muscular dystrophy 2019-08-29 no assertion criteria provided clinical testing
Biologia e Medicina Molecolare, Sapienza University of Rome RCV000850189 SCV001142204 pathogenic Megaconial type congenital muscular dystrophy 2016-11-17 no assertion criteria provided case-control 10 years old female patient with mental retardation, myopathy, paresis, lack of speech, normal CPK and aldolase.

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