ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.3G>T (p.Met1Ile)

dbSNP: rs2109380946
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV002247151 SCV002520016 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2022-05-23 criteria provided, single submitter clinical testing

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