ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.9A>G (p.Ala3=)

gnomAD frequency: 0.00001  dbSNP: rs886043810
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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) RCV000308444 SCV000342120 uncertain significance not provided 2016-05-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518014 SCV003261984 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-03-16 criteria provided, single submitter clinical testing

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