ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.683G>A (p.Gly228Glu)

dbSNP: rs1737147925
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genexplore Diagnostics and Research Centre Pvt. Ltd., NA RCV004006232 SCV004807479 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2018-07-18 no assertion criteria provided clinical testing

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