ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.129A>T (p.Gly43=)

gnomAD frequency: 0.00001  dbSNP: rs1281862962
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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) RCV000597882 SCV000702196 uncertain significance not provided 2016-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532380 SCV003025154 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-01-26 criteria provided, single submitter clinical testing

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