ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.161A>G (p.Lys54Arg)

dbSNP: rs1734710360
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733715 SCV001984532 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2020-08-04 criteria provided, single submitter clinical testing

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