ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.90G>A (p.Arg30=)

dbSNP: rs11541942
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001276220 SCV001637891 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-04-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276220 SCV001462209 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2020-03-11 no assertion criteria provided clinical testing

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