ClinVar Miner

Submissions for variant NM_003673.4(TCAP):c.32C>A (p.Ser11Ter)

dbSNP: rs45495192
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evolutionary and Medical Genetics Laboratory, Center for Cellular and Molecular Biology RCV000128799 SCV000155230 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2G 2013-11-04 no assertion criteria provided case-control

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