ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.538T>C (p.Phe180Leu)

dbSNP: rs536728645
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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) RCV000732217 SCV000860140 uncertain significance not provided 2018-03-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000796636 SCV000936157 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-01-22 criteria provided, single submitter clinical testing

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