ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.1893+3A>G

dbSNP: rs886041053
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000258806 SCV002022413 pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18 2020-03-05 criteria provided, single submitter clinical testing
OMIM RCV000258806 SCV000328525 pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18 2018-09-25 no assertion criteria provided literature only

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