ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.102del (p.Glu35fs)

dbSNP: rs2109376007
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001784969 SCV002020104 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2019-10-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001784969 SCV004200996 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-06-13 criteria provided, single submitter clinical testing

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