ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.29_33del (p.Glu10fs)

dbSNP: rs1057517064
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411494 SCV000486692 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2016-07-19 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000729946 SCV000857649 pathogenic not provided 2017-10-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000411494 SCV004201014 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2022-08-23 criteria provided, single submitter clinical testing

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