ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.323T>G (p.Leu108Arg)

dbSNP: rs104893870
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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 RCV000009255 SCV003827607 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-11-30 criteria provided, single submitter clinical testing
OMIM RCV000009255 SCV000029473 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 1996-12-01 no assertion criteria provided literature only

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