ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.572del (p.Leu191fs)

dbSNP: rs886042546
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000265848 SCV000334883 pathogenic not provided 2015-09-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475899 SCV004200992 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-07-19 criteria provided, single submitter clinical testing

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